Canonical Allele Identifier: CA8708910
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 324514
ClinVar RCV Id: RCV000286107 RCV000335223 RCV000374780 RCV000408219 RCV000534953 RCV002522999 RCV003137924
dbSNP Id: rs772552529
ExAC: 17:62018931 G / A
gnomAD v2: 17-62018931-G-A
gnomAD v3: 17-63941571-G-A
gnomAD v4: 17-63941571-G-A
MyVariant Identifiers: chr17:g.62018931G>A (hg19) chr17:g.63941571G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941571G>A , CM000679.2:g.63941571G>A GRCh38
NC_000017.10:g.62018931G>A , CM000679.1:g.62018931G>A GRCh37
NC_000017.9:g.59372663G>A NCBI36
NG_011699.1:g.36348C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4711C>T MANE Select ENSP00000396320.1:p.Pro1571Ser
ENST00000578147.5:c.4711C>T ENSP00000463963.1:p.Pro1571Ser
NM_000334.4:c.4711C>T MANE Select NP_000325.4:p.Pro1571Ser
XM_005257566.3:c.4711C>T XP_005257623.1:p.Pro1571Ser
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