Canonical Allele Identifier: CA8710258

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 385359
• ClinVar RCV Id: RCV000429964 ; RCV000874771 ; RCV001087609 ; RCV002506048
• dbSNP Id: rs80266947
• ExAC: 17:62049998 G / A
• gnomAD v2: 17-62049998-G-A
• gnomAD v3: 17-63972638-G-A
• gnomAD v4: 17-63972638-G-A
• COSMIC: COSM3820237
• MyVariant Identifiers: chr17:g.62049998G>A (hg19) ; chr17:g.63972638G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63972638G>A , CM000679.2:g.63972638G>A	GRCh38
NC_000017.10:g.62049998G>A , CM000679.1:g.62049998G>A	GRCh37
NC_000017.9:g.59403730G>A	NCBI36
NG_011699.1:g.5281C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000435607.3:c.204C>T MANE Select	ENSP00000396320.1:p.Tyr68=
ENST00000578147.5:c.204C>T	ENSP00000463963.1:p.Tyr68=
NM_000334.4:c.204C>T MANE Select	NP_000325.4:p.Tyr68=
XM_005257566.3:c.204C>T	XP_005257623.1:p.Tyr68=