SNP Links for Protein (Select 148743778) - SNP

Links from Protein

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Select item 14909776641.

rs1490977664 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGGAGAGCTGGTGAG [Show Flanks]
Chromosome:: 16:66566942 (GRCh38)
16:66600846 (GRCh37)
Canonical SPDI:: NC_000016.10:66566942:CTGGTGAGCGGAGAGCTGGTGAG:CTGGTGAGCGGAGAGCTGGTGAGCGGAGAGCTGGTGAG
Gene:: CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,splice_donor_variant
Validated:: by frequency
MAF:: CTGGTGAGCGGAGAG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66566951_66566965dup, NC_000016.9:g.66600854_66600868dup

Select item 14904799332.

rs1490479933 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:66569940 (GRCh38)
16:66603843 (GRCh37)
Canonical SPDI:: NC_000016.10:66569939:T:C
Gene:: CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.66569940T>C, NC_000016.9:g.66603843T>C, NM_052999.4:c.437T>C, NM_052999.3:c.437T>C, NM_181268.3:c.437T>C, NM_181268.2:c.437T>C, NM_181269.3:c.86T>C, NM_181269.2:c.86T>C, NM_181270.3:c.86T>C, NM_181270.2:c.86T>C, NM_181298.1:c.116T>C, NM_181299.1:c.116T>C, NM_181287.1:c.86T>C, NM_181288.1:c.86T>C, NM_181297.1:c.116T>C, NM_181300.1:c.116T>C, NM_181301.1:c.116T>C, NP_443725.3:p.Leu146Pro, NP_851785.2:p.Leu146Pro, NP_851786.1:p.Leu29Pro, NP_851787.1:p.Leu29Pro

Select item 14898240303.

rs1489824030 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 16:66566811 (GRCh38)
16:66600714 (GRCh37)
Canonical SPDI:: NC_000016.10:66566805:CACACAC:CACAC
Gene:: CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: CACAC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.66566807AC[2], NC_000016.9:g.66600710AC[2], NM_052999.4:c.298_299del, NM_052999.3:c.298_299del, NM_181268.3:c.298_299del, NM_181268.2:c.298_299del, NM_181298.1:c.-28AC[2], NM_181299.1:c.-28AC[2], NM_181297.1:c.-28AC[2], NM_181300.1:c.-28AC[2], NM_181301.1:c.-28AC[2], NP_443725.3:p.His99_Thr100insTer, NP_851785.2:p.His99_Thr100insTer

Select item 14816029544.

rs1481602954 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:66566888 (GRCh38)
16:66600791 (GRCh37)
Canonical SPDI:: NC_000016.10:66566887:G:T
Gene:: CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66566888G>T, NC_000016.9:g.66600791G>T, NM_052999.4:c.375G>T, NM_052999.3:c.375G>T, NM_181268.3:c.375G>T, NM_181268.2:c.375G>T, NM_181298.1:c.54G>T, NM_181299.1:c.54G>T, NM_181297.1:c.54G>T, NM_181300.1:c.54G>T, NM_181301.1:c.54G>T, NP_443725.3:p.Arg125Ser, NP_851785.2:p.Arg125Ser

Select item 14782514825.

rs1478251482 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGT [Show Flanks]
Chromosome:: 16:66566609 (GRCh38)
16:66600513 (GRCh37)
Canonical SPDI:: NC_000016.10:66566609:GTAGT:GTAGTAGT
Gene:: CKLF (Varview), CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: splice_donor_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa
MAF:: GTAGTAGT=0./0 (ALFA)
GTA=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.66566612_66566614dup, NC_000016.9:g.66600515_66600517dup, NM_052999.4:c.99_101dup, NM_052999.3:c.99_101dup, NM_181268.3:c.99_101dup, NM_181268.2:c.99_101dup, NM_181289.2:c.99_101dup, NM_181285.1:c.99_101dup, NM_181286.1:c.99_101dup, NM_181289.1:c.99_101dup, NP_443725.3:p.Val34dup, NP_851785.2:p.Val34dup

Select item 14621531886.

rs1462153188 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:66566652 (GRCh38)
16:66600555 (GRCh37)
Canonical SPDI:: NC_000016.10:66566651:A:G
Gene:: CKLF (Varview), CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.66566652A>G, NC_000016.9:g.66600555A>G, NM_052999.4:c.139A>G, NM_052999.3:c.139A>G, NM_181268.3:c.139A>G, NM_181268.2:c.139A>G, NM_181289.2:c.139A>G, NM_181285.1:c.139A>G, NM_181286.1:c.139A>G, NM_181289.1:c.139A>G, NP_443725.3:p.Lys47Glu, NP_851785.2:p.Lys47Glu

Select item 14592785247.

rs1459278524 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:66566621 (GRCh38)
16:66600524 (GRCh37)
Canonical SPDI:: NC_000016.10:66566620:T:C
Gene:: CKLF (Varview), CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant,synonymous_variant
HGVS:: NC_000016.10:g.66566621T>C, NC_000016.9:g.66600524T>C, NM_052999.4:c.108T>C, NM_052999.3:c.108T>C, NM_181268.3:c.108T>C, NM_181268.2:c.108T>C, NM_181289.2:c.108T>C, NM_181285.1:c.108T>C, NM_181286.1:c.108T>C, NM_181289.1:c.108T>C

Select item 14589584818.

rs1458958481 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGC [Show Flanks]
Chromosome:: 16:66566705 (GRCh38)
16:66600609 (GRCh37)
Canonical SPDI:: NC_000016.10:66566705:GCCGCCGC:GCCGCCGCCGC
Gene:: CKLF (Varview), CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,inframe_insertion,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: GCCGCCGCCGC=0./0 (ALFA)
GCC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66566708CGC[3], NC_000016.9:g.66600611CGC[3], NM_052999.4:c.195CGC[3], NM_052999.3:c.195CGC[3], NM_181268.3:c.195CGC[3], NM_181268.2:c.195CGC[3], NM_181285.1:c.195CGC[3], NM_181286.1:c.195CGC[3], NP_443725.3:p.Ala67dup, NP_851785.2:p.Ala67dup

Select item 14567687519.

rs1456768751 has merged into rs773521289 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTTTTTT [Show Flanks]
Chromosome:: 16:66570027 (GRCh38)
16:66603930 (GRCh37)
Canonical SPDI:: NC_000016.10:66570026:TTTTTTTT:TTTTTTT,NC_000016.10:66570026:TTTTTTTT:TTTTTTTTT,NC_000016.10:66570026:TTTTTTTT:TTTTTTTTTTTTTT
Gene:: CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TTTTTT=0.000008/1 (ExAC)
-=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.66570034del, NC_000016.10:g.66570034dup, NC_000016.10:g.66570029_66570034dup, NC_000016.9:g.66603937del, NC_000016.9:g.66603937dup, NC_000016.9:g.66603932_66603937dup, NM_052999.4:c.531del, NM_052999.4:c.531dup, NM_052999.4:c.526_531dup, NM_052999.3:c.531del, NM_052999.3:c.531dup, NM_052999.3:c.526_531dup, NM_181268.3:c.531del, NM_181268.3:c.531dup, NM_181268.3:c.526_531dup, NM_181268.2:c.531del, NM_181268.2:c.531dup, NM_181268.2:c.526_531dup, NM_181269.3:c.180del, NM_181269.3:c.180dup, NM_181269.3:c.175_180dup, NM_181269.2:c.180del, NM_181269.2:c.180dup, NM_181269.2:c.175_180dup, NM_181270.3:c.180del, NM_181270.3:c.180dup, NM_181270.3:c.175_180dup, NM_181270.2:c.180del, NM_181270.2:c.180dup, NM_181270.2:c.175_180dup, NM_181298.1:c.210del, NM_181298.1:c.210dup, NM_181298.1:c.205_210dup, NM_181299.1:c.210del, NM_181299.1:c.210dup, NM_181299.1:c.205_210dup, NM_181287.1:c.180del, NM_181287.1:c.180dup, NM_181287.1:c.175_180dup, NM_181288.1:c.180del, NM_181288.1:c.180dup, NM_181288.1:c.175_180dup, NM_181297.1:c.210del, NM_181297.1:c.210dup, NM_181297.1:c.205_210dup, NM_181300.1:c.210del, NM_181300.1:c.210dup, NM_181300.1:c.205_210dup, NM_181301.1:c.210del, NM_181301.1:c.210dup, NM_181301.1:c.205_210dup, NP_443725.3:p.Phe177fs, NP_443725.3:p.Ile178fs, NP_443725.3:p.Phe176_Phe177dup, NP_851785.2:p.Phe177fs, NP_851785.2:p.Ile178fs, NP_851785.2:p.Phe176_Phe177dup, NP_851786.1:p.Phe60fs, NP_851786.1:p.Ile61fs, NP_851786.1:p.Phe59_Phe60dup, NP_851787.1:p.Phe60fs, NP_851787.1:p.Ile61fs, NP_851787.1:p.Phe59_Phe60dup

Select item 145151253110.

rs1451512531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:66566575 (GRCh38)
16:66600478 (GRCh37)
Canonical SPDI:: NC_000016.10:66566574:C:G
Gene:: CKLF (Varview), CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant
HGVS:: NC_000016.10:g.66566575C>G, NC_000016.9:g.66600478C>G, NM_052999.4:c.62C>G, NM_052999.3:c.62C>G, NM_181268.3:c.62C>G, NM_181268.2:c.62C>G, NM_181269.3:c.62C>G, NM_181269.2:c.62C>G, NM_181270.3:c.62C>G, NM_181270.2:c.62C>G, NM_181271.3:c.62C>G, NM_181271.2:c.62C>G, NM_181272.3:c.62C>G, NM_181272.2:c.62C>G, NM_181283.3:c.62C>G, NM_181283.2:c.62C>G, NM_181296.3:c.62C>G, NM_181296.2:c.62C>G, NM_181289.2:c.62C>G, NM_181293.1:c.62C>G, NM_181287.1:c.62C>G, NM_181288.1:c.62C>G, NM_181285.1:c.62C>G, NM_181286.1:c.62C>G, NM_181290.1:c.62C>G, NM_181294.1:c.62C>G, NM_181295.1:c.62C>G, NM_181289.1:c.62C>G, NP_443725.3:p.Pro21Arg, NP_851785.2:p.Pro21Arg, NP_851786.1:p.Pro21Arg, NP_851787.1:p.Pro21Arg, NP_851788.1:p.Pro21Arg, NP_851789.1:p.Pro21Arg, NP_851800.1:p.Pro21Arg, NP_851813.1:p.Pro21Arg

Select item 143418297211.

rs1434182972 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:66566835 (GRCh38)
16:66600738 (GRCh37)
Canonical SPDI:: NC_000016.10:66566834:A:T
Gene:: CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.66566835A>T, NC_000016.9:g.66600738A>T, NM_052999.4:c.322A>T, NM_052999.3:c.322A>T, NM_181268.3:c.322A>T, NM_181268.2:c.322A>T, NM_181298.1:c.1A>T, NM_181299.1:c.1A>T, NM_181297.1:c.1A>T, NM_181300.1:c.1A>T, NM_181301.1:c.1A>T, NP_443725.3:p.Met108Leu, NP_851785.2:p.Met108Leu

Select item 142710116512.

rs1427101165 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:66577127 (GRCh38)
16:66611030 (GRCh37)
Canonical SPDI:: NC_000016.10:66577126:A:T
Gene:: CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.66577127A>T, NC_000016.9:g.66611030A>T, NM_052999.4:c.615A>T, NM_052999.3:c.615A>T, NM_181268.3:c.615A>T, NM_181268.2:c.615A>T, NM_181269.3:c.264A>T, NM_181269.2:c.264A>T, NM_181270.3:c.264A>T, NM_181270.2:c.264A>T, NM_181271.3:c.123A>T, NM_181271.2:c.123A>T, NM_181272.3:c.105A>T, NM_181272.2:c.105A>T, NM_181283.3:c.105A>T, NM_181283.2:c.105A>T, NM_001204099.2:c.261A>T, NM_001204099.1:c.261A>T, NM_001204098.2:c.198A>T, NM_001204098.1:c.198A>T, NM_001202509.2:c.102A>T, NM_001202509.1:c.102A>T, NM_181293.1:c.*306A>T, NM_181287.1:c.*122A>T, NM_181288.1:c.*122A>T, NM_181285.1:c.260A>T, NM_181292.1:c.*112A>T, NM_181286.1:c.260A>T, NM_181290.1:c.*108A>T, NM_001040139.1:c.102A>T

Select item 142472583113.

rs1424725831 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:66566893 (GRCh38)
16:66600796 (GRCh37)
Canonical SPDI:: NC_000016.10:66566892:G:A,NC_000016.10:66566892:G:T
Gene:: CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.66566893G>A, NC_000016.10:g.66566893G>T, NC_000016.9:g.66600796G>A, NC_000016.9:g.66600796G>T, NM_052999.4:c.380G>A, NM_052999.4:c.380G>T, NM_052999.3:c.380G>A, NM_052999.3:c.380G>T, NM_181268.3:c.380G>A, NM_181268.3:c.380G>T, NM_181268.2:c.380G>A, NM_181268.2:c.380G>T, NM_181298.1:c.59G>A, NM_181298.1:c.59G>T, NM_181299.1:c.59G>A, NM_181299.1:c.59G>T, NM_181297.1:c.59G>A, NM_181297.1:c.59G>T, NM_181300.1:c.59G>A, NM_181300.1:c.59G>T, NM_181301.1:c.59G>A, NM_181301.1:c.59G>T, NP_443725.3:p.Ser127Asn, NP_443725.3:p.Ser127Ile, NP_851785.2:p.Ser127Asn, NP_851785.2:p.Ser127Ile

Select item 142388558714.

rs1423885587 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:66577155 (GRCh38)
16:66611058 (GRCh37)
Canonical SPDI:: NC_000016.10:66577154:T:C
Gene:: CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.66577155T>C, NC_000016.9:g.66611058T>C, NM_052999.4:c.643T>C, NM_052999.3:c.643T>C, NM_181268.3:c.643T>C, NM_181268.2:c.643T>C, NM_181269.3:c.292T>C, NM_181269.2:c.292T>C, NM_181270.3:c.292T>C, NM_181270.2:c.292T>C, NM_181271.3:c.151T>C, NM_181271.2:c.151T>C, NM_181272.3:c.133T>C, NM_181272.2:c.133T>C, NM_181283.3:c.133T>C, NM_181283.2:c.133T>C, NM_001204099.2:c.289T>C, NM_001204099.1:c.289T>C, NM_001204098.2:c.226T>C, NM_001204098.1:c.226T>C, NM_001202509.2:c.130T>C, NM_001202509.1:c.130T>C, NM_181293.1:c.*334T>C, NM_181287.1:c.*150T>C, NM_181288.1:c.*150T>C, NM_181285.1:c.*9T>C, NM_181292.1:c.*140T>C, NM_181286.1:c.*9T>C, NM_181290.1:c.*136T>C, NM_181294.1:c.*9T>C, NM_181295.1:c.*9T>C, NM_001040139.1:c.130T>C

Select item 141811515215.

rs1418115152 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 16:66570034 (GRCh38)
16:66603938 (GRCh37)
Canonical SPDI:: NC_000016.10:66570034:A:AA
Gene:: CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.66570035dup, NC_000016.9:g.66603938dup, NM_052999.4:c.532dup, NM_052999.3:c.532dup, NM_181268.3:c.532dup, NM_181268.2:c.532dup, NM_181269.3:c.181dup, NM_181269.2:c.181dup, NM_181270.3:c.181dup, NM_181270.2:c.181dup, NM_181298.1:c.211dup, NM_181299.1:c.211dup, NM_181287.1:c.181dup, NM_181288.1:c.181dup, NM_181297.1:c.211dup, NM_181300.1:c.211dup, NM_181301.1:c.211dup, NP_443725.3:p.Ile178fs, NP_851785.2:p.Ile178fs, NP_851786.1:p.Ile61fs, NP_851787.1:p.Ile61fs

Select item 140653512216.

rs1406535122 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66566584 (GRCh38)
16:66600487 (GRCh37)
Canonical SPDI:: NC_000016.10:66566583:C:T
Gene:: CKLF (Varview), CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66566584C>T, NC_000016.9:g.66600487C>T, NM_052999.4:c.71C>T, NM_052999.3:c.71C>T, NM_181268.3:c.71C>T, NM_181268.2:c.71C>T, NM_181269.3:c.71C>T, NM_181269.2:c.71C>T, NM_181270.3:c.71C>T, NM_181270.2:c.71C>T, NM_181271.3:c.71C>T, NM_181271.2:c.71C>T, NM_181272.3:c.71C>T, NM_181272.2:c.71C>T, NM_181283.3:c.71C>T, NM_181283.2:c.71C>T, NM_181296.3:c.71C>T, NM_181296.2:c.71C>T, NM_181289.2:c.71C>T, NM_181293.1:c.71C>T, NM_181287.1:c.71C>T, NM_181288.1:c.71C>T, NM_181285.1:c.71C>T, NM_181286.1:c.71C>T, NM_181290.1:c.71C>T, NM_181294.1:c.71C>T, NM_181295.1:c.71C>T, NM_181289.1:c.71C>T, NP_443725.3:p.Ala24Val, NP_851785.2:p.Ala24Val, NP_851786.1:p.Ala24Val, NP_851787.1:p.Ala24Val, NP_851788.1:p.Ala24Val, NP_851789.1:p.Ala24Val, NP_851800.1:p.Ala24Val, NP_851813.1:p.Ala24Val

Select item 140195962317.

rs1401959623 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66566651 (GRCh38)
16:66600554 (GRCh37)
Canonical SPDI:: NC_000016.10:66566650:G:A
Gene:: CKLF (Varview), CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000023/6 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000016.10:g.66566651G>A, NC_000016.9:g.66600554G>A, NM_052999.4:c.138G>A, NM_052999.3:c.138G>A, NM_181268.3:c.138G>A, NM_181268.2:c.138G>A, NM_181289.2:c.138G>A, NM_181285.1:c.138G>A, NM_181286.1:c.138G>A, NM_181289.1:c.138G>A

Select item 139368290518.

rs1393682905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:66566656 (GRCh38)
16:66600559 (GRCh37)
Canonical SPDI:: NC_000016.10:66566655:C:G,NC_000016.10:66566655:C:T
Gene:: CKLF (Varview), CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.66566656C>G, NC_000016.10:g.66566656C>T, NC_000016.9:g.66600559C>G, NC_000016.9:g.66600559C>T, NM_052999.4:c.143C>G, NM_052999.4:c.143C>T, NM_052999.3:c.143C>G, NM_052999.3:c.143C>T, NM_181268.3:c.143C>G, NM_181268.3:c.143C>T, NM_181268.2:c.143C>G, NM_181268.2:c.143C>T, NM_181289.2:c.143C>G, NM_181289.2:c.143C>T, NM_181285.1:c.143C>G, NM_181285.1:c.143C>T, NM_181286.1:c.143C>G, NM_181286.1:c.143C>T, NM_181289.1:c.143C>G, NM_181289.1:c.143C>T, NP_443725.3:p.Thr48Ser, NP_443725.3:p.Thr48Ile, NP_851785.2:p.Thr48Ser, NP_851785.2:p.Thr48Ile

Select item 139084924719.

rs1390849247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66577164 (GRCh38)
16:66611067 (GRCh37)
Canonical SPDI:: NC_000016.10:66577163:C:T
Gene:: CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66577164C>T, NC_000016.9:g.66611067C>T, NM_052999.4:c.652C>T, NM_052999.3:c.652C>T, NM_181268.3:c.652C>T, NM_181268.2:c.652C>T, NM_181269.3:c.301C>T, NM_181269.2:c.301C>T, NM_181270.3:c.301C>T, NM_181270.2:c.301C>T, NM_181271.3:c.160C>T, NM_181271.2:c.160C>T, NM_181272.3:c.142C>T, NM_181272.2:c.142C>T, NM_181283.3:c.142C>T, NM_181283.2:c.142C>T, NM_001204099.2:c.298C>T, NM_001204099.1:c.298C>T, NM_001204098.2:c.235C>T, NM_001204098.1:c.235C>T, NM_001202509.2:c.139C>T, NM_001202509.1:c.139C>T, NM_181293.1:c.*343C>T, NM_181287.1:c.*159C>T, NM_181288.1:c.*159C>T, NM_181285.1:c.*18C>T, NM_181292.1:c.*149C>T, NM_181286.1:c.*18C>T, NM_181290.1:c.*145C>T, NM_181294.1:c.*18C>T, NM_181295.1:c.*18C>T, NM_001040139.1:c.139C>T, NP_443725.3:p.Gln218Ter, NP_851785.2:p.Gln218Ter, NP_851786.1:p.Gln101Ter, NP_851787.1:p.Gln101Ter, NP_851788.1:p.Gln54Ter, NP_851789.1:p.Gln48Ter, NP_851800.1:p.Gln48Ter, NP_001191028.1:p.Gln100Ter, NP_001191027.1:p.Gln79Ter, NP_001189438.1:p.Gln47Ter

Select item 138802776220.

rs1388027762 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAGCACCCCG>- [Show Flanks]
Chromosome:: 16:66566666 (GRCh38)
16:66600569 (GRCh37)
Canonical SPDI:: NC_000016.10:66566657:GCACCCCGGAAGCACCCCG:GCACCCCG
Gene:: CKLF (Varview), CMTM1 (Varview), CKLF-CMTM1 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,intron_variant,frameshift_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66566666_66566676del, NC_000016.9:g.66600569_66600579del, NM_052999.4:c.153_163del, NM_052999.3:c.153_163del, NM_181268.3:c.153_163del, NM_181268.2:c.153_163del, NM_181285.1:c.153_163del, NM_181286.1:c.153_163del, NP_443725.3:p.Lys52fs, NP_851785.2:p.Lys52fs

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