SNP Links for Protein (Select 953953875) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 557

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Select item 14897376451.

rs1489737645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:65824805 (GRCh38)
18:63492041 (GRCh37)
Canonical SPDI:: NC_000018.10:65824804:C:A
Gene:: CDH7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.65824805C>A, NC_000018.9:g.63492041C>A, NM_004361.5:c.955C>A, NM_004361.4:c.955C>A, NM_004361.3:c.955C>A, NM_004361.2:c.955C>A, NM_033646.4:c.955C>A, NM_033646.3:c.955C>A, NM_033646.2:c.955C>A, NM_033646.1:c.955C>A, NM_001317214.3:c.955C>A, NM_001317214.2:c.955C>A, NM_001317214.1:c.955C>A, NM_001362438.2:c.955C>A, NM_001362438.1:c.955C>A, NP_004352.2:p.Gln319Lys, NP_387450.1:p.Gln319Lys, NP_001304143.1:p.Gln319Lys, NP_001349367.1:p.Gln319Lys

Select item 14875217942.

rs1487521794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:65862927 (GRCh38)
18:63530163 (GRCh37)
Canonical SPDI:: NC_000018.10:65862926:G:C
Gene:: CDH7 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.65862927G>C, NC_000018.9:g.63530163G>C, NM_001317214.3:c.1874G>C, NM_001317214.2:c.1874G>C, NM_001317214.1:c.1874G>C, NP_001304143.1:p.Cys625Ser

Select item 14820582843.

rs1482058284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:65862763 (GRCh38)
18:63529999 (GRCh37)
Canonical SPDI:: NC_000018.10:65862762:C:T
Gene:: CDH7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0./0 (KOREAN)
T=0.000004/1 (GnomAD_exomes)
T=0.00006/1 (TOMMO)
HGVS:: NC_000018.10:g.65862763C>T, NC_000018.9:g.63529999C>T, NM_004361.5:c.1710C>T, NM_004361.4:c.1710C>T, NM_004361.3:c.1710C>T, NM_004361.2:c.1710C>T, NM_033646.4:c.1710C>T, NM_033646.3:c.1710C>T, NM_033646.2:c.1710C>T, NM_033646.1:c.1710C>T, NM_001317214.3:c.1710C>T, NM_001317214.2:c.1710C>T, NM_001317214.1:c.1710C>T, NM_001362438.2:c.1710C>T, NM_001362438.1:c.1710C>T

Select item 14815338694.

rs1481533869 [Homo sapiens]

Variant type:: INS
Alleles:: ->GGTAGGTA [Show Flanks]
Chromosome:: 18:65862940 (GRCh38)
18:63530177 (GRCh37)
Canonical SPDI:: NC_000018.10:65862940::GGTAGGTA
Gene:: CDH7 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: GGTAGGTA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.65862940_65862941insGGTAGGTA, NC_000018.9:g.63530176_63530177insGGTAGGTA, NM_001317214.3:c.1887_1888insGGTAGGTA, NM_001317214.2:c.1887_1888insGGTAGGTA, NM_001317214.1:c.1887_1888insGGTAGGTA, NP_001304143.1:p.Leu630fs

Select item 14780418325.

rs1478041832 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:65843937 (GRCh38)
18:63511173 (GRCh37)
Canonical SPDI:: NC_000018.10:65843936:A:G
Gene:: CDH7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.65843937A>G, NC_000018.9:g.63511173A>G, NM_004361.5:c.1107A>G, NM_004361.4:c.1107A>G, NM_004361.3:c.1107A>G, NM_004361.2:c.1107A>G, NM_033646.4:c.1107A>G, NM_033646.3:c.1107A>G, NM_033646.2:c.1107A>G, NM_033646.1:c.1107A>G, NM_001317214.3:c.1107A>G, NM_001317214.2:c.1107A>G, NM_001317214.1:c.1107A>G, NM_001362438.2:c.1107A>G, NM_001362438.1:c.1107A>G

Select item 14746385086.

rs1474638508 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:65762959 (GRCh38)
18:63430195 (GRCh37)
Canonical SPDI:: NC_000018.10:65762958:A:G
Gene:: CDH7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.65762959A>G, NC_000018.9:g.63430195A>G, NM_004361.5:c.117A>G, NM_004361.4:c.117A>G, NM_004361.3:c.117A>G, NM_004361.2:c.117A>G, NM_033646.4:c.117A>G, NM_033646.3:c.117A>G, NM_033646.2:c.117A>G, NM_033646.1:c.117A>G, NM_001317214.3:c.117A>G, NM_001317214.2:c.117A>G, NM_001317214.1:c.117A>G, NM_001362438.2:c.117A>G, NM_001362438.1:c.117A>G

Select item 14714886767.

rs1471488676 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:65762960 (GRCh38)
18:63430196 (GRCh37)
Canonical SPDI:: NC_000018.10:65762959:T:C
Gene:: CDH7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.65762960T>C, NC_000018.9:g.63430196T>C, NM_004361.5:c.118T>C, NM_004361.4:c.118T>C, NM_004361.3:c.118T>C, NM_004361.2:c.118T>C, NM_033646.4:c.118T>C, NM_033646.3:c.118T>C, NM_033646.2:c.118T>C, NM_033646.1:c.118T>C, NM_001317214.3:c.118T>C, NM_001317214.2:c.118T>C, NM_001317214.1:c.118T>C, NM_001362438.2:c.118T>C, NM_001362438.1:c.118T>C, NP_004352.2:p.Ser40Pro, NP_387450.1:p.Ser40Pro, NP_001304143.1:p.Ser40Pro, NP_001349367.1:p.Ser40Pro

Select item 14708560908.

rs1470856090 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:65862890 (GRCh38)
18:63530126 (GRCh37)
Canonical SPDI:: NC_000018.10:65862889:A:G
Gene:: CDH7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000071/1 (TOMMO)
G=0.000342/1 (KOREAN)
HGVS:: NC_000018.10:g.65862890A>G, NC_000018.9:g.63530126A>G, NM_004361.5:c.1837A>G, NM_004361.4:c.1837A>G, NM_004361.3:c.1837A>G, NM_004361.2:c.1837A>G, NM_033646.4:c.1837A>G, NM_033646.3:c.1837A>G, NM_033646.2:c.1837A>G, NM_033646.1:c.1837A>G, NM_001317214.3:c.1837A>G, NM_001317214.2:c.1837A>G, NM_001317214.1:c.1837A>G, NM_001362438.2:c.1837A>G, NM_001362438.1:c.1837A>G, NP_004352.2:p.Ile613Val, NP_387450.1:p.Ile613Val, NP_001304143.1:p.Ile613Val, NP_001349367.1:p.Ile613Val

Select item 14697336549.

rs1469733654 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACA>- [Show Flanks]
Chromosome:: 18:65857869 (GRCh38)
18:63525105 (GRCh37)
Canonical SPDI:: NC_000018.10:65857866:CAACA:CA
Gene:: CDH7 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: CA=0./0 (ALFA)
HGVS:: NC_000018.10:g.65857869_65857871del, NC_000018.9:g.63525105_63525107del, NM_004361.5:c.1289_1291del, NM_004361.4:c.1289_1291del, NM_004361.3:c.1289_1291del, NM_004361.2:c.1289_1291del, NM_033646.4:c.1289_1291del, NM_033646.3:c.1289_1291del, NM_033646.2:c.1289_1291del, NM_033646.1:c.1289_1291del, NM_001317214.3:c.1289_1291del, NM_001317214.2:c.1289_1291del, NM_001317214.1:c.1289_1291del, NM_001362438.2:c.1289_1291del, NM_001362438.1:c.1289_1291del, NP_004352.2:p.Asn430del, NP_387450.1:p.Asn430del, NP_001304143.1:p.Asn430del, NP_001349367.1:p.Asn430del

Select item 146948945410.

rs1469489454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:65843949 (GRCh38)
18:63511185 (GRCh37)
Canonical SPDI:: NC_000018.10:65843948:G:A
Gene:: CDH7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.65843949G>A, NC_000018.9:g.63511185G>A, NM_004361.5:c.1119G>A, NM_004361.4:c.1119G>A, NM_004361.3:c.1119G>A, NM_004361.2:c.1119G>A, NM_033646.4:c.1119G>A, NM_033646.3:c.1119G>A, NM_033646.2:c.1119G>A, NM_033646.1:c.1119G>A, NM_001317214.3:c.1119G>A, NM_001317214.2:c.1119G>A, NM_001317214.1:c.1119G>A, NM_001362438.2:c.1119G>A, NM_001362438.1:c.1119G>A

Select item 146903837111.

rs1469038371 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:65843956 (GRCh38)
18:63511192 (GRCh37)
Canonical SPDI:: NC_000018.10:65843955:G:A
Gene:: CDH7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.65843956G>A, NC_000018.9:g.63511192G>A, NM_004361.5:c.1126G>A, NM_004361.4:c.1126G>A, NM_004361.3:c.1126G>A, NM_004361.2:c.1126G>A, NM_033646.4:c.1126G>A, NM_033646.3:c.1126G>A, NM_033646.2:c.1126G>A, NM_033646.1:c.1126G>A, NM_001317214.3:c.1126G>A, NM_001317214.2:c.1126G>A, NM_001317214.1:c.1126G>A, NM_001362438.2:c.1126G>A, NM_001362438.1:c.1126G>A, NP_004352.2:p.Val376Met, NP_387450.1:p.Val376Met, NP_001304143.1:p.Val376Met, NP_001349367.1:p.Val376Met

Select item 146777487612.

rs1467774876 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 18:65824652 (GRCh38)
18:63491888 (GRCh37)
Canonical SPDI:: NC_000018.10:65824651:C:A,NC_000018.10:65824651:C:G
Gene:: CDH7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000018.10:g.65824652C>A, NC_000018.10:g.65824652C>G, NC_000018.9:g.63491888C>A, NC_000018.9:g.63491888C>G, NM_004361.5:c.802C>A, NM_004361.5:c.802C>G, NM_004361.4:c.802C>A, NM_004361.4:c.802C>G, NM_004361.3:c.802C>A, NM_004361.3:c.802C>G, NM_004361.2:c.802C>A, NM_004361.2:c.802C>G, NM_033646.4:c.802C>A, NM_033646.4:c.802C>G, NM_033646.3:c.802C>A, NM_033646.3:c.802C>G, NM_033646.2:c.802C>A, NM_033646.2:c.802C>G, NM_033646.1:c.802C>A, NM_033646.1:c.802C>G, NM_001317214.3:c.802C>A, NM_001317214.3:c.802C>G, NM_001317214.2:c.802C>A, NM_001317214.2:c.802C>G, NM_001317214.1:c.802C>A, NM_001317214.1:c.802C>G, NM_001362438.2:c.802C>A, NM_001362438.2:c.802C>G, NM_001362438.1:c.802C>A, NM_001362438.1:c.802C>G, NP_004352.2:p.Gln268Lys, NP_004352.2:p.Gln268Glu, NP_387450.1:p.Gln268Lys, NP_387450.1:p.Gln268Glu, NP_001304143.1:p.Gln268Lys, NP_001304143.1:p.Gln268Glu, NP_001349367.1:p.Gln268Lys, NP_001349367.1:p.Gln268Glu

Select item 146737155913.

rs1467371559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:65824801 (GRCh38)
18:63492037 (GRCh37)
Canonical SPDI:: NC_000018.10:65824800:A:G
Gene:: CDH7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.65824801A>G, NC_000018.9:g.63492037A>G, NM_004361.5:c.951A>G, NM_004361.4:c.951A>G, NM_004361.3:c.951A>G, NM_004361.2:c.951A>G, NM_033646.4:c.951A>G, NM_033646.3:c.951A>G, NM_033646.2:c.951A>G, NM_033646.1:c.951A>G, NM_001317214.3:c.951A>G, NM_001317214.2:c.951A>G, NM_001317214.1:c.951A>G, NM_001362438.2:c.951A>G, NM_001362438.1:c.951A>G

Select item 146632713414.

rs1466327134 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:65862684 (GRCh38)
18:63529920 (GRCh37)
Canonical SPDI:: NC_000018.10:65862683:T:G
Gene:: CDH7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.65862684T>G, NC_000018.9:g.63529920T>G, NM_004361.5:c.1631T>G, NM_004361.4:c.1631T>G, NM_004361.3:c.1631T>G, NM_004361.2:c.1631T>G, NM_033646.4:c.1631T>G, NM_033646.3:c.1631T>G, NM_033646.2:c.1631T>G, NM_033646.1:c.1631T>G, NM_001317214.3:c.1631T>G, NM_001317214.2:c.1631T>G, NM_001317214.1:c.1631T>G, NM_001362438.2:c.1631T>G, NM_001362438.1:c.1631T>G, NP_004352.2:p.Leu544Arg, NP_387450.1:p.Leu544Arg, NP_001304143.1:p.Leu544Arg, NP_001349367.1:p.Leu544Arg

Select item 146482856715.

rs1464828567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:65862858 (GRCh38)
18:63530094 (GRCh37)
Canonical SPDI:: NC_000018.10:65862857:C:G
Gene:: CDH7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.65862858C>G, NC_000018.9:g.63530094C>G, NM_004361.5:c.1805C>G, NM_004361.4:c.1805C>G, NM_004361.3:c.1805C>G, NM_004361.2:c.1805C>G, NM_033646.4:c.1805C>G, NM_033646.3:c.1805C>G, NM_033646.2:c.1805C>G, NM_033646.1:c.1805C>G, NM_001317214.3:c.1805C>G, NM_001317214.2:c.1805C>G, NM_001317214.1:c.1805C>G, NM_001362438.2:c.1805C>G, NM_001362438.1:c.1805C>G, NP_004352.2:p.Pro602Arg, NP_387450.1:p.Pro602Arg, NP_001304143.1:p.Pro602Arg, NP_001349367.1:p.Pro602Arg

Select item 146266825816.

rs1462668258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:65762989 (GRCh38)
18:63430225 (GRCh37)
Canonical SPDI:: NC_000018.10:65762988:G:T
Gene:: CDH7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.65762989G>T, NC_000018.9:g.63430225G>T, NM_004361.5:c.147G>T, NM_004361.4:c.147G>T, NM_004361.3:c.147G>T, NM_004361.2:c.147G>T, NM_033646.4:c.147G>T, NM_033646.3:c.147G>T, NM_033646.2:c.147G>T, NM_033646.1:c.147G>T, NM_001317214.3:c.147G>T, NM_001317214.2:c.147G>T, NM_001317214.1:c.147G>T, NM_001362438.2:c.147G>T, NM_001362438.1:c.147G>T, NP_004352.2:p.Trp49Cys, NP_387450.1:p.Trp49Cys, NP_001304143.1:p.Trp49Cys, NP_001349367.1:p.Trp49Cys

Select item 146255534417.

rs1462555344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 18:65824676 (GRCh38)
18:63491912 (GRCh37)
Canonical SPDI:: NC_000018.10:65824675:C:A,NC_000018.10:65824675:C:T
Gene:: CDH7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.65824676C>A, NC_000018.10:g.65824676C>T, NC_000018.9:g.63491912C>A, NC_000018.9:g.63491912C>T, NM_004361.5:c.826C>A, NM_004361.5:c.826C>T, NM_004361.4:c.826C>A, NM_004361.4:c.826C>T, NM_004361.3:c.826C>A, NM_004361.3:c.826C>T, NM_004361.2:c.826C>A, NM_004361.2:c.826C>T, NM_033646.4:c.826C>A, NM_033646.4:c.826C>T, NM_033646.3:c.826C>A, NM_033646.3:c.826C>T, NM_033646.2:c.826C>A, NM_033646.2:c.826C>T, NM_033646.1:c.826C>A, NM_033646.1:c.826C>T, NM_001317214.3:c.826C>A, NM_001317214.3:c.826C>T, NM_001317214.2:c.826C>A, NM_001317214.2:c.826C>T, NM_001317214.1:c.826C>A, NM_001317214.1:c.826C>T, NM_001362438.2:c.826C>A, NM_001362438.2:c.826C>T, NM_001362438.1:c.826C>A, NM_001362438.1:c.826C>T, NP_004352.2:p.Pro276Thr, NP_004352.2:p.Pro276Ser, NP_387450.1:p.Pro276Thr, NP_387450.1:p.Pro276Ser, NP_001304143.1:p.Pro276Thr, NP_001304143.1:p.Pro276Ser, NP_001349367.1:p.Pro276Thr, NP_001349367.1:p.Pro276Ser

Select item 146109032218.

rs1461090322 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 18:65809919 (GRCh38)
18:63477155 (GRCh37)
Canonical SPDI:: NC_000018.10:65809918:A:G,NC_000018.10:65809918:A:T
Gene:: CDH7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000018.10:g.65809919A>G, NC_000018.10:g.65809919A>T, NC_000018.9:g.63477155A>G, NC_000018.9:g.63477155A>T, NM_004361.5:c.426A>G, NM_004361.5:c.426A>T, NM_004361.4:c.426A>G, NM_004361.4:c.426A>T, NM_004361.3:c.426A>G, NM_004361.3:c.426A>T, NM_004361.2:c.426A>G, NM_004361.2:c.426A>T, NM_033646.4:c.426A>G, NM_033646.4:c.426A>T, NM_033646.3:c.426A>G, NM_033646.3:c.426A>T, NM_033646.2:c.426A>G, NM_033646.2:c.426A>T, NM_033646.1:c.426A>G, NM_033646.1:c.426A>T, NM_001317214.3:c.426A>G, NM_001317214.3:c.426A>T, NM_001317214.2:c.426A>G, NM_001317214.2:c.426A>T, NM_001317214.1:c.426A>G, NM_001317214.1:c.426A>T, NM_001362438.2:c.426A>G, NM_001362438.2:c.426A>T, NM_001362438.1:c.426A>G, NM_001362438.1:c.426A>T, NP_004352.2:p.Lys142Asn, NP_387450.1:p.Lys142Asn, NP_001304143.1:p.Lys142Asn, NP_001349367.1:p.Lys142Asn

Select item 146090162919.

rs1460901629 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:65762966 (GRCh38)
18:63430202 (GRCh37)
Canonical SPDI:: NC_000018.10:65762965:A:G
Gene:: CDH7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000018.10:g.65762966A>G, NC_000018.9:g.63430202A>G, NM_004361.5:c.124A>G, NM_004361.4:c.124A>G, NM_004361.3:c.124A>G, NM_004361.2:c.124A>G, NM_033646.4:c.124A>G, NM_033646.3:c.124A>G, NM_033646.2:c.124A>G, NM_033646.1:c.124A>G, NM_001317214.3:c.124A>G, NM_001317214.2:c.124A>G, NM_001317214.1:c.124A>G, NM_001362438.2:c.124A>G, NM_001362438.1:c.124A>G, NP_004352.2:p.Arg42Gly, NP_387450.1:p.Arg42Gly, NP_001304143.1:p.Arg42Gly, NP_001349367.1:p.Arg42Gly

Select item 145477900520.

rs1454779005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:65862870 (GRCh38)
18:63530106 (GRCh37)
Canonical SPDI:: NC_000018.10:65862869:G:A
Gene:: CDH7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.65862870G>A, NC_000018.9:g.63530106G>A, NM_004361.5:c.1817G>A, NM_004361.4:c.1817G>A, NM_004361.3:c.1817G>A, NM_004361.2:c.1817G>A, NM_033646.4:c.1817G>A, NM_033646.3:c.1817G>A, NM_033646.2:c.1817G>A, NM_033646.1:c.1817G>A, NM_001317214.3:c.1817G>A, NM_001317214.2:c.1817G>A, NM_001317214.1:c.1817G>A, NM_001362438.2:c.1817G>A, NM_001362438.1:c.1817G>A, NP_004352.2:p.Ser606Asn, NP_387450.1:p.Ser606Asn, NP_001304143.1:p.Ser606Asn, NP_001349367.1:p.Ser606Asn

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