Canonical Allele Identifier: CA8709691
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 1458757
ClinVar RCV Id: RCV001949592
dbSNP Id: rs763017199
ExAC: 17:62036634 G / A
gnomAD v2: 17-62036634-G-A
gnomAD v3: 17-63959274-G-A
gnomAD v4: 17-63959274-G-A
COSMIC: COSM3890175
MyVariant Identifiers: chr17:g.62036634G>A (hg19) chr17:g.63959274G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63959274G>A , CM000679.2:g.63959274G>A GRCh38
NC_000017.10:g.62036634G>A , CM000679.1:g.62036634G>A GRCh37
NC_000017.9:g.59390366G>A NCBI36
NG_011699.1:g.18645C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.2010C>T MANE Select ENSP00000396320.1:p.Ser670=
ENST00000578147.5:c.2010C>T ENSP00000463963.1:p.Ser670=
NM_000334.4:c.2010C>T MANE Select NP_000325.4:p.Ser670=
XM_005257566.3:c.2010C>T XP_005257623.1:p.Ser670=
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