SNP Links for Nucleotide (Select 634743317) - SNP

Select item 14907275661.

rs1490727566 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:177096326 (GRCh38)
5:176523327 (GRCh37)
Canonical SPDI:: NC_000005.10:177096325:T:A,NC_000005.10:177096325:T:C
Gene:: FGFR4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.177096326T>A, NC_000005.10:g.177096326T>C, NC_000005.9:g.176523327T>A, NC_000005.9:g.176523327T>C, NG_012067.1:g.14407T>A, NG_012067.1:g.14407T>C, NM_002011.5:c.1984T>A, NM_002011.5:c.1984T>C, NM_002011.4:c.1984T>A, NM_002011.4:c.1984T>C, NM_002011.3:c.1984T>A, NM_002011.3:c.1984T>C, NM_213647.3:c.1984T>A, NM_213647.3:c.1984T>C, NM_213647.2:c.1984T>A, NM_213647.2:c.1984T>C, NM_213647.1:c.1984T>A, NM_213647.1:c.1984T>C, NM_022963.3:c.1864T>A, NM_022963.3:c.1864T>C, NM_022963.2:c.1864T>A, NM_022963.2:c.1864T>C, NM_001354984.2:c.1984T>A, NM_001354984.2:c.1984T>C, NM_001354984.1:c.1984T>A, NM_001354984.1:c.1984T>C, NM_001291980.2:c.1780T>A, NM_001291980.2:c.1780T>C, NM_001291980.1:c.1780T>A, NM_001291980.1:c.1780T>C, NP_002002.3:p.Phe662Ile, NP_002002.3:p.Phe662Leu, NP_998812.1:p.Phe662Ile, NP_998812.1:p.Phe662Leu, NP_075252.2:p.Phe622Ile, NP_075252.2:p.Phe622Leu, NP_001341913.1:p.Phe662Ile, NP_001341913.1:p.Phe662Leu, NP_001278909.1:p.Phe594Ile, NP_001278909.1:p.Phe594Leu

Select item 14889972482.

rs1488997248 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:177097379 (GRCh38)
5:176524380 (GRCh37)
Canonical SPDI:: NC_000005.10:177097378:G:A,NC_000005.10:177097378:G:T
Gene:: FGFR4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.177097379G>A, NC_000005.10:g.177097379G>T, NC_000005.9:g.176524380G>A, NC_000005.9:g.176524380G>T, NG_012067.1:g.15460G>A, NG_012067.1:g.15460G>T, NM_002011.5:c.2241G>A, NM_002011.5:c.2241G>T, NM_002011.4:c.2241G>A, NM_002011.4:c.2241G>T, NM_002011.3:c.2241G>A, NM_002011.3:c.2241G>T, NM_213647.3:c.2241G>A, NM_213647.3:c.2241G>T, NM_213647.2:c.2241G>A, NM_213647.2:c.2241G>T, NM_213647.1:c.2241G>A, NM_213647.1:c.2241G>T, NM_022963.3:c.2121G>A, NM_022963.3:c.2121G>T, NM_022963.2:c.2121G>A, NM_022963.2:c.2121G>T, NM_001354984.2:c.2241G>A, NM_001354984.2:c.2241G>T, NM_001354984.1:c.2241G>A, NM_001354984.1:c.2241G>T, NM_001291980.2:c.2037G>A, NM_001291980.2:c.2037G>T, NM_001291980.1:c.2037G>A, NM_001291980.1:c.2037G>T

Select item 14876577363.

rs1487657736 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:177091692 (GRCh38)
5:176518693 (GRCh37)
Canonical SPDI:: NC_000005.10:177091691:A:G
Gene:: FGFR4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.177091692A>G, NC_000005.9:g.176518693A>G, NG_012067.1:g.9773A>G, NM_002011.5:c.611A>G, NM_002011.4:c.611A>G, NM_002011.3:c.611A>G, NM_213647.3:c.611A>G, NM_213647.2:c.611A>G, NM_213647.1:c.611A>G, NM_022963.3:c.611A>G, NM_022963.2:c.611A>G, NM_001354984.2:c.611A>G, NM_001354984.1:c.611A>G, NM_001291980.2:c.611A>G, NM_001291980.1:c.611A>G, NP_002002.3:p.His204Arg, NP_998812.1:p.His204Arg, NP_075252.2:p.His204Arg, NP_001341913.1:p.His204Arg, NP_001278909.1:p.His204Arg

Select item 14870679744.

rs1487067974 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177097299 (GRCh38)
5:176524300 (GRCh37)
Canonical SPDI:: NC_000005.10:177097298:C:T
Gene:: FGFR4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.177097299C>T, NC_000005.9:g.176524300C>T, NG_012067.1:g.15380C>T, NM_002011.5:c.2161C>T, NM_002011.4:c.2161C>T, NM_002011.3:c.2161C>T, NM_213647.3:c.2161C>T, NM_213647.2:c.2161C>T, NM_213647.1:c.2161C>T, NM_022963.3:c.2041C>T, NM_022963.2:c.2041C>T, NM_001354984.2:c.2161C>T, NM_001354984.1:c.2161C>T, NM_001291980.2:c.1957C>T, NM_001291980.1:c.1957C>T

Select item 14860038395.

rs1486003839 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 5:177092450 (GRCh38)
5:176519451 (GRCh37)
Canonical SPDI:: NC_000005.10:177092449:A:C,NC_000005.10:177092449:A:T
Gene:: FGFR4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177092450A>C, NC_000005.10:g.177092450A>T, NC_000005.9:g.176519451A>C, NC_000005.9:g.176519451A>T, NG_012067.1:g.10531A>C, NG_012067.1:g.10531A>T, NM_002011.5:c.857A>C, NM_002011.5:c.857A>T, NM_002011.4:c.857A>C, NM_002011.4:c.857A>T, NM_002011.3:c.857A>C, NM_002011.3:c.857A>T, NM_213647.3:c.857A>C, NM_213647.3:c.857A>T, NM_213647.2:c.857A>C, NM_213647.2:c.857A>T, NM_213647.1:c.857A>C, NM_213647.1:c.857A>T, NM_022963.3:c.857A>C, NM_022963.3:c.857A>T, NM_022963.2:c.857A>C, NM_022963.2:c.857A>T, NM_001354984.2:c.857A>C, NM_001354984.2:c.857A>T, NM_001354984.1:c.857A>C, NM_001354984.1:c.857A>T, NM_001291980.2:c.857A>C, NM_001291980.2:c.857A>T, NM_001291980.1:c.857A>C, NM_001291980.1:c.857A>T, NP_002002.3:p.His286Pro, NP_002002.3:p.His286Leu, NP_998812.1:p.His286Pro, NP_998812.1:p.His286Leu, NP_075252.2:p.His286Pro, NP_075252.2:p.His286Leu, NP_001341913.1:p.His286Pro, NP_001341913.1:p.His286Leu, NP_001278909.1:p.His286Pro, NP_001278909.1:p.His286Leu

Select item 14849534756.

rs1484953475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177091096 (GRCh38)
5:176518097 (GRCh37)
Canonical SPDI:: NC_000005.10:177091095:G:A
Gene:: FGFR4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000005.10:g.177091096G>A, NC_000005.9:g.176518097G>A, NG_012067.1:g.9177G>A, NM_002011.5:c.595G>A, NM_002011.4:c.595G>A, NM_002011.3:c.595G>A, NM_213647.3:c.595G>A, NM_213647.2:c.595G>A, NM_213647.1:c.595G>A, NM_022963.3:c.595G>A, NM_022963.2:c.595G>A, NM_001354984.2:c.595G>A, NM_001354984.1:c.595G>A, NM_001291980.2:c.595G>A, NM_001291980.1:c.595G>A, NP_002002.3:p.Gly199Ser, NP_998812.1:p.Gly199Ser, NP_075252.2:p.Gly199Ser, NP_001341913.1:p.Gly199Ser, NP_001278909.1:p.Gly199Ser

Select item 14849036137.

rs1484903613 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:177090429 (GRCh38)
5:176517430 (GRCh37)
Canonical SPDI:: NC_000005.10:177090428:A:T
Gene:: FGFR4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177090429A>T, NC_000005.9:g.176517430A>T, NG_012067.1:g.8510A>T, NM_002011.5:c.131A>T, NM_002011.4:c.131A>T, NM_002011.3:c.131A>T, NM_213647.3:c.131A>T, NM_213647.2:c.131A>T, NM_213647.1:c.131A>T, NM_022963.3:c.131A>T, NM_022963.2:c.131A>T, NM_001354984.2:c.131A>T, NM_001354984.1:c.131A>T, NM_001291980.2:c.131A>T, NM_001291980.1:c.131A>T, NP_002002.3:p.Glu44Val, NP_998812.1:p.Glu44Val, NP_075252.2:p.Glu44Val, NP_001341913.1:p.Glu44Val, NP_001278909.1:p.Glu44Val

Select item 14845906878.

rs1484590687 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGCT [Show Flanks]
Chromosome:: 5:177096117 (GRCh38)
5:176523119 (GRCh37)
Canonical SPDI:: NC_000005.10:177096117:TTGCT:TTGCTTGCT
Gene:: FGFR4 (Varview)
Functional Consequence:: inframe_indel,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: TTGC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177096119_177096122dup, NC_000005.9:g.176523120_176523123dup, NG_012067.1:g.14200_14203dup, NM_002011.5:c.1884_1887dup, NM_002011.4:c.1884_1887dup, NM_002011.3:c.1884_1887dup, NM_213647.3:c.1884_1887dup, NM_213647.2:c.1884_1887dup, NM_213647.1:c.1884_1887dup, NM_022963.3:c.1764_1767dup, NM_022963.2:c.1764_1767dup, NM_001354984.2:c.1884_1887dup, NM_001354984.1:c.1884_1887dup, NM_001291980.2:c.1680_1683dup, NM_001291980.1:c.1680_1683dup, NP_002002.3:p.Asp630delinsCysTer, NP_998812.1:p.Asp630delinsCysTer, NP_075252.2:p.Asp590delinsCysTer, NP_001341913.1:p.Asp630delinsCysTer, NP_001278909.1:p.Asp562delinsCysTer

Select item 14827141889.

rs1482714188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:177091724 (GRCh38)
5:176518725 (GRCh37)
Canonical SPDI:: NC_000005.10:177091723:G:A,NC_000005.10:177091723:G:C
Gene:: FGFR4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177091724G>A, NC_000005.10:g.177091724G>C, NC_000005.9:g.176518725G>A, NC_000005.9:g.176518725G>C, NG_012067.1:g.9805G>A, NG_012067.1:g.9805G>C, NM_002011.5:c.643G>A, NM_002011.5:c.643G>C, NM_002011.4:c.643G>A, NM_002011.4:c.643G>C, NM_002011.3:c.643G>A, NM_002011.3:c.643G>C, NM_213647.3:c.643G>A, NM_213647.3:c.643G>C, NM_213647.2:c.643G>A, NM_213647.2:c.643G>C, NM_213647.1:c.643G>A, NM_213647.1:c.643G>C, NM_022963.3:c.643G>A, NM_022963.3:c.643G>C, NM_022963.2:c.643G>A, NM_022963.2:c.643G>C, NM_001354984.2:c.643G>A, NM_001354984.2:c.643G>C, NM_001354984.1:c.643G>A, NM_001354984.1:c.643G>C, NM_001291980.2:c.643G>A, NM_001291980.2:c.643G>C, NM_001291980.1:c.643G>A, NM_001291980.1:c.643G>C, NP_002002.3:p.Val215Met, NP_002002.3:p.Val215Leu, NP_998812.1:p.Val215Met, NP_998812.1:p.Val215Leu, NP_075252.2:p.Val215Met, NP_075252.2:p.Val215Leu, NP_001341913.1:p.Val215Met, NP_001341913.1:p.Val215Leu, NP_001278909.1:p.Val215Met, NP_001278909.1:p.Val215Leu

Select item 148185202910.

rs1481852029 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:177098010 (GRCh38)
5:176525011 (GRCh37)
Canonical SPDI:: NC_000005.10:177098009:C:G
Gene:: FGFR4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000106/2 (TOMMO)
HGVS:: NC_000005.10:g.177098010C>G, NC_000005.9:g.176525011C>G, NG_012067.1:g.16091C>G, NM_002011.5:c.*334C>G, NM_002011.4:c.*334C>G, NM_002011.3:c.*334C>G, NM_213647.3:c.*334C>G, NM_213647.2:c.*334C>G, NM_213647.1:c.*334C>G, NM_022963.3:c.*334C>G, NM_022963.2:c.*334C>G, NM_001354984.2:c.*334C>G, NM_001354984.1:c.*334C>G, NM_001291980.2:c.*334C>G, NM_001291980.1:c.*334C>G

Select item 147984664011.

rs1479846640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:177095411 (GRCh38)
5:176522412 (GRCh37)
Canonical SPDI:: NC_000005.10:177095410:T:A
Gene:: FGFR4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177095411T>A, NC_000005.9:g.176522412T>A, NG_012067.1:g.13492T>A, NM_002011.5:c.1601T>A, NM_002011.4:c.1601T>A, NM_002011.3:c.1601T>A, NM_213647.3:c.1601T>A, NM_213647.2:c.1601T>A, NM_213647.1:c.1601T>A, NM_022963.3:c.1481T>A, NM_022963.2:c.1481T>A, NM_001354984.2:c.1601T>A, NM_001354984.1:c.1601T>A, NM_001291980.2:c.1397T>A, NM_001291980.1:c.1397T>A, NP_002002.3:p.Ile534Asn, NP_998812.1:p.Ile534Asn, NP_075252.2:p.Ile494Asn, NP_001341913.1:p.Ile534Asn, NP_001278909.1:p.Ile466Asn

Select item 147950684012.

rs1479506840 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:177093536 (GRCh38)
5:176520537 (GRCh37)
Canonical SPDI:: NC_000005.10:177093535:A:C
Gene:: FGFR4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177093536A>C, NC_000005.9:g.176520537A>C, NG_012067.1:g.11617A>C, NM_002011.5:c.1382A>C, NM_002011.4:c.1382A>C, NM_002011.3:c.1382A>C, NM_213647.3:c.1382A>C, NM_213647.2:c.1382A>C, NM_213647.1:c.1382A>C, NM_022963.3:c.1262A>C, NM_022963.2:c.1262A>C, NM_001354984.2:c.1382A>C, NM_001354984.1:c.1382A>C, NP_002002.3:p.Glu461Ala, NP_998812.1:p.Glu461Ala, NP_075252.2:p.Glu421Ala, NP_001341913.1:p.Glu461Ala

Select item 147903803613.

rs1479038036 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 5:177090967 (GRCh38)
5:176517968 (GRCh37)
Canonical SPDI:: NC_000005.10:177090966:G:A,NC_000005.10:177090966:G:C,NC_000005.10:177090966:G:T
Gene:: FGFR4 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.177090967G>A, NC_000005.10:g.177090967G>C, NC_000005.10:g.177090967G>T, NC_000005.9:g.176517968G>A, NC_000005.9:g.176517968G>C, NC_000005.9:g.176517968G>T, NG_012067.1:g.9048G>A, NG_012067.1:g.9048G>C, NG_012067.1:g.9048G>T, NM_002011.5:c.466G>A, NM_002011.5:c.466G>C, NM_002011.5:c.466G>T, NM_002011.4:c.466G>A, NM_002011.4:c.466G>C, NM_002011.4:c.466G>T, NM_002011.3:c.466G>A, NM_002011.3:c.466G>C, NM_002011.3:c.466G>T, NM_213647.3:c.466G>A, NM_213647.3:c.466G>C, NM_213647.3:c.466G>T, NM_213647.2:c.466G>A, NM_213647.2:c.466G>C, NM_213647.2:c.466G>T, NM_213647.1:c.466G>A, NM_213647.1:c.466G>C, NM_213647.1:c.466G>T, NM_022963.3:c.466G>A, NM_022963.3:c.466G>C, NM_022963.3:c.466G>T, NM_022963.2:c.466G>A, NM_022963.2:c.466G>C, NM_022963.2:c.466G>T, NM_001354984.2:c.466G>A, NM_001354984.2:c.466G>C, NM_001354984.2:c.466G>T, NM_001354984.1:c.466G>A, NM_001354984.1:c.466G>C, NM_001354984.1:c.466G>T, NM_001291980.2:c.466G>A, NM_001291980.2:c.466G>C, NM_001291980.2:c.466G>T, NM_001291980.1:c.466G>A, NM_001291980.1:c.466G>C, NM_001291980.1:c.466G>T, NP_002002.3:p.Glu156Lys, NP_002002.3:p.Glu156Gln, NP_002002.3:p.Glu156Ter, NP_998812.1:p.Glu156Lys, NP_998812.1:p.Glu156Gln, NP_998812.1:p.Glu156Ter, NP_075252.2:p.Glu156Lys, NP_075252.2:p.Glu156Gln, NP_075252.2:p.Glu156Ter, NP_001341913.1:p.Glu156Lys, NP_001341913.1:p.Glu156Gln, NP_001341913.1:p.Glu156Ter, NP_001278909.1:p.Glu156Lys, NP_001278909.1:p.Glu156Gln, NP_001278909.1:p.Glu156Ter

Select item 147555024914.

rs1475550249 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 5:177090979 (GRCh38)
5:176517980 (GRCh37)
Canonical SPDI:: NC_000005.10:177090978:C:A,NC_000005.10:177090978:C:G,NC_000005.10:177090978:C:T
Gene:: FGFR4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.177090979C>A, NC_000005.10:g.177090979C>G, NC_000005.10:g.177090979C>T, NC_000005.9:g.176517980C>A, NC_000005.9:g.176517980C>G, NC_000005.9:g.176517980C>T, NG_012067.1:g.9060C>A, NG_012067.1:g.9060C>G, NG_012067.1:g.9060C>T, NM_002011.5:c.478C>A, NM_002011.5:c.478C>G, NM_002011.5:c.478C>T, NM_002011.4:c.478C>A, NM_002011.4:c.478C>G, NM_002011.4:c.478C>T, NM_002011.3:c.478C>A, NM_002011.3:c.478C>G, NM_002011.3:c.478C>T, NM_213647.3:c.478C>A, NM_213647.3:c.478C>G, NM_213647.3:c.478C>T, NM_213647.2:c.478C>A, NM_213647.2:c.478C>G, NM_213647.2:c.478C>T, NM_213647.1:c.478C>A, NM_213647.1:c.478C>G, NM_213647.1:c.478C>T, NM_022963.3:c.478C>A, NM_022963.3:c.478C>G, NM_022963.3:c.478C>T, NM_022963.2:c.478C>A, NM_022963.2:c.478C>G, NM_022963.2:c.478C>T, NM_001354984.2:c.478C>A, NM_001354984.2:c.478C>G, NM_001354984.2:c.478C>T, NM_001354984.1:c.478C>A, NM_001354984.1:c.478C>G, NM_001354984.1:c.478C>T, NM_001291980.2:c.478C>A, NM_001291980.2:c.478C>G, NM_001291980.2:c.478C>T, NM_001291980.1:c.478C>A, NM_001291980.1:c.478C>G, NM_001291980.1:c.478C>T, NP_002002.3:p.His160Asn, NP_002002.3:p.His160Asp, NP_002002.3:p.His160Tyr, NP_998812.1:p.His160Asn, NP_998812.1:p.His160Asp, NP_998812.1:p.His160Tyr, NP_075252.2:p.His160Asn, NP_075252.2:p.His160Asp, NP_075252.2:p.His160Tyr, NP_001341913.1:p.His160Asn, NP_001341913.1:p.His160Asp, NP_001341913.1:p.His160Tyr, NP_001278909.1:p.His160Asn, NP_001278909.1:p.His160Asp, NP_001278909.1:p.His160Tyr

Select item 147493868715.

rs1474938687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177096307 (GRCh38)
5:176523308 (GRCh37)
Canonical SPDI:: NC_000005.10:177096306:G:A
Gene:: FGFR4 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.177096307G>A, NC_000005.9:g.176523308G>A, NG_012067.1:g.14388G>A, NM_002011.5:c.1965G>A, NM_002011.4:c.1965G>A, NM_002011.3:c.1965G>A, NM_213647.3:c.1965G>A, NM_213647.2:c.1965G>A, NM_213647.1:c.1965G>A, NM_022963.3:c.1845G>A, NM_022963.2:c.1845G>A, NM_001354984.2:c.1965G>A, NM_001354984.1:c.1965G>A, NM_001291980.2:c.1761G>A, NM_001291980.1:c.1761G>A, NP_002002.3:p.Trp655Ter, NP_998812.1:p.Trp655Ter, NP_075252.2:p.Trp615Ter, NP_001341913.1:p.Trp655Ter, NP_001278909.1:p.Trp587Ter

Select item 147343285416.

rs1473432854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:177093543 (GRCh38)
5:176520544 (GRCh37)
Canonical SPDI:: NC_000005.10:177093542:C:A,NC_000005.10:177093542:C:G
Gene:: FGFR4 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177093543C>A, NC_000005.10:g.177093543C>G, NC_000005.9:g.176520544C>A, NC_000005.9:g.176520544C>G, NG_012067.1:g.11624C>A, NG_012067.1:g.11624C>G, NM_002011.5:c.1389C>A, NM_002011.5:c.1389C>G, NM_002011.4:c.1389C>A, NM_002011.4:c.1389C>G, NM_002011.3:c.1389C>A, NM_002011.3:c.1389C>G, NM_213647.3:c.1389C>A, NM_213647.3:c.1389C>G, NM_213647.2:c.1389C>A, NM_213647.2:c.1389C>G, NM_213647.1:c.1389C>A, NM_213647.1:c.1389C>G, NM_022963.3:c.1269C>A, NM_022963.3:c.1269C>G, NM_022963.2:c.1269C>A, NM_022963.2:c.1269C>G, NM_001354984.2:c.1389C>A, NM_001354984.2:c.1389C>G, NM_001354984.1:c.1389C>A, NM_001354984.1:c.1389C>G

Select item 147319987017.

rs1473199870 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:177097951 (GRCh38)
5:176524952 (GRCh37)
Canonical SPDI:: NC_000005.10:177097950:T:C
Gene:: FGFR4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.177097951T>C, NC_000005.9:g.176524952T>C, NG_012067.1:g.16032T>C, NM_002011.5:c.*275T>C, NM_002011.4:c.*275T>C, NM_002011.3:c.*275T>C, NM_213647.3:c.*275T>C, NM_213647.2:c.*275T>C, NM_213647.1:c.*275T>C, NM_022963.3:c.*275T>C, NM_022963.2:c.*275T>C, NM_001354984.2:c.*275T>C, NM_001354984.1:c.*275T>C, NM_001291980.2:c.*275T>C, NM_001291980.1:c.*275T>C

Select item 147254140818.

rs1472541408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177092745 (GRCh38)
5:176519746 (GRCh37)
Canonical SPDI:: NC_000005.10:177092744:G:A
Gene:: FGFR4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.177092745G>A, NC_000005.9:g.176519746G>A, NG_012067.1:g.10826G>A, NM_002011.5:c.1018G>A, NM_002011.4:c.1018G>A, NM_002011.3:c.1018G>A, NM_213647.3:c.1018G>A, NM_213647.2:c.1018G>A, NM_213647.1:c.1018G>A, NM_022963.3:c.1018G>A, NM_022963.2:c.1018G>A, NM_001354984.2:c.1018G>A, NM_001354984.1:c.1018G>A, NM_001291980.2:c.1018G>A, NM_001291980.1:c.1018G>A, NP_002002.3:p.Gly340Ser, NP_998812.1:p.Gly340Ser, NP_075252.2:p.Gly340Ser, NP_001341913.1:p.Gly340Ser, NP_001278909.1:p.Gly340Ser

Select item 147198418819.

rs1471984188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177092713 (GRCh38)
5:176519714 (GRCh37)
Canonical SPDI:: NC_000005.10:177092712:G:A
Gene:: FGFR4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177092713G>A, NC_000005.9:g.176519714G>A, NG_012067.1:g.10794G>A, NM_002011.5:c.986G>A, NM_002011.4:c.986G>A, NM_002011.3:c.986G>A, NM_213647.3:c.986G>A, NM_213647.2:c.986G>A, NM_213647.1:c.986G>A, NM_022963.3:c.986G>A, NM_022963.2:c.986G>A, NM_001354984.2:c.986G>A, NM_001354984.1:c.986G>A, NM_001291980.2:c.986G>A, NM_001291980.1:c.986G>A, NP_002002.3:p.Gly329Asp, NP_998812.1:p.Gly329Asp, NP_075252.2:p.Gly329Asp, NP_001341913.1:p.Gly329Asp, NP_001278909.1:p.Gly329Asp

Select item 147147156120.

rs1471471561 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177090794 (GRCh38)
5:176517795 (GRCh37)
Canonical SPDI:: NC_000005.10:177090793:C:T
Gene:: FGFR4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177090794C>T, NC_000005.9:g.176517795C>T, NG_012067.1:g.8875C>T, NM_002011.5:c.405C>T, NM_002011.4:c.405C>T, NM_002011.3:c.405C>T, NM_213647.3:c.405C>T, NM_213647.2:c.405C>T, NM_213647.1:c.405C>T, NM_022963.3:c.405C>T, NM_022963.2:c.405C>T, NM_001354984.2:c.405C>T, NM_001354984.1:c.405C>T, NM_001291980.2:c.405C>T, NM_001291980.1:c.405C>T

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