Canonical Allele Identifier: CA8708848

Gene: SCN4A

Linked Data

• dbSNP Id: rs768831127
• ExAC: 17:62018593 C / G
• gnomAD v2: 17-62018593-C-G
• gnomAD v4: 17-63941233-C-G
• MyVariant Identifiers: chr17:g.62018593C>G (hg19) ; chr17:g.63941233C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941233C>G , CM000679.2:g.63941233C>G	GRCh38
NC_000017.10:g.62018593C>G , CM000679.1:g.62018593C>G	GRCh37
NC_000017.9:g.59372325C>G	NCBI36
NG_011699.1:g.36686G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.5049G>C MANE Select	ENSP00000396320.1:p.Leu1683=
ENST00000578147.5:c.5049G>C	ENSP00000463963.1:p.Leu1683=
NM_000334.4:c.5049G>C MANE Select	NP_000325.4:p.Leu1683=
XM_005257566.3:c.5049G>C	XP_005257623.1:p.Leu1683=