Canonical Allele Identifier: CA8710053

Gene: SCN4A

Linked Data

• dbSNP Id: rs749591227
• ExAC: 17:62045697 C / T
• gnomAD v2: 17-62045697-C-T
• gnomAD v4: 17-63968337-C-T
• MyVariant Identifiers: chr17:g.62045697C>T (hg19) ; chr17:g.63968337C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63968337C>T , CM000679.2:g.63968337C>T	GRCh38
NC_000017.10:g.62045697C>T , CM000679.1:g.62045697C>T	GRCh37
NC_000017.9:g.59399429C>T	NCBI36
NG_011699.1:g.9582G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.722G>A MANE Select	ENSP00000396320.1:p.Gly241Glu
ENST00000578147.5:c.722G>A	ENSP00000463963.1:p.Gly241Glu
NM_000334.4:c.722G>A MANE Select	NP_000325.4:p.Gly241Glu
XM_005257566.3:c.722G>A	XP_005257623.1:p.Gly241Glu