Canonical Allele Identifier: CA8708961
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs763893717
ExAC: 17:62019200 G / A
gnomAD v2: 17-62019200-G-A
MyVariant Identifiers: chr17:g.62019200G>A (hg19) chr17:g.63941840G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941840G>A , CM000679.2:g.63941840G>A GRCh38
NC_000017.10:g.62019200G>A , CM000679.1:g.62019200G>A GRCh37
NC_000017.9:g.59372932G>A NCBI36
NG_011699.1:g.36079C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.4442C>T MANE Select ENSP00000396320.1:p.Ala1481Val
ENST00000578147.5:c.4442C>T ENSP00000463963.1:p.Ala1481Val
NM_000334.4:c.4442C>T MANE Select NP_000325.4:p.Ala1481Val
XM_005257566.3:c.4442C>T XP_005257623.1:p.Ala1481Val
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