Canonical Allele Identifier: CA400617397

Gene: SCN4A

Linked Data

• COSMIC: COSM5021957
• MyVariant Identifiers: chr17:g.62022119C>G (hg19) ; chr17:g.63944759C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63944759C>G , CM000679.2:g.63944759C>G	GRCh38
NC_000017.10:g.62022119C>G , CM000679.1:g.62022119C>G	GRCh37
NC_000017.9:g.59375851C>G	NCBI36
NG_011699.1:g.33160G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3826G>C MANE Select	ENSP00000396320.1:p.Val1276Leu
ENST00000578147.5:c.3826G>C	ENSP00000463963.1:p.Val1276Leu
NM_000334.4:c.3826G>C MANE Select	NP_000325.4:p.Val1276Leu
XM_005257566.3:c.3826G>C	XP_005257623.1:p.Val1276Leu