Canonical Allele Identifier: CA8710196

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324551
• ClinVar RCV Id: RCV000269546 ; RCV000309638 ; RCV000324805 ; RCV000364205 ; RCV000379284 ; RCV001310375
• dbSNP Id: rs150158100
• ExAC: 17:62049740 G / A
• gnomAD v2: 17-62049740-G-A
• gnomAD v3: 17-63972380-G-A
• gnomAD v4: 17-63972380-G-A
• MyVariant Identifiers: chr17:g.62049740G>A (hg19) ; chr17:g.63972380G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63972380G>A , CM000679.2:g.63972380G>A	GRCh38
NC_000017.10:g.62049740G>A , CM000679.1:g.62049740G>A	GRCh37
NC_000017.9:g.59403472G>A	NCBI36
NG_011699.1:g.5539C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.364C>T MANE Select	ENSP00000396320.1:p.Arg122Cys
ENST00000578147.5:c.364C>T	ENSP00000463963.1:p.Arg122Cys
NM_000334.4:c.364C>T MANE Select	NP_000325.4:p.Arg122Cys
XM_005257566.3:c.364C>T	XP_005257623.1:p.Arg122Cys