Canonical Allele Identifier: CA8708806

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 1017327
• ClinVar RCV Id: RCV001316461 ; RCV002543695
• dbSNP Id: rs376526108
• ExAC: 17:62018408 C / T
• gnomAD v2: 17-62018408-C-T
• gnomAD v3: 17-63941048-C-T
• gnomAD v4: 17-63941048-C-T
• COSMIC: COSM2795698
• MyVariant Identifiers: chr17:g.62018408C>T (hg19) ; chr17:g.63941048C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941048C>T , CM000679.2:g.63941048C>T	GRCh38
NC_000017.10:g.62018408C>T , CM000679.1:g.62018408C>T	GRCh37
NC_000017.9:g.59372140C>T	NCBI36
NG_011699.1:g.36871G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.5234G>A MANE Select	ENSP00000396320.1:p.Arg1745His
ENST00000578147.5:c.5234G>A	ENSP00000463963.1:p.Arg1745His
NM_000334.4:c.5234G>A MANE Select	NP_000325.4:p.Arg1745His
XM_005257566.3:c.5234G>A	XP_005257623.1:p.Arg1745His