Canonical Allele Identifier: CA400618001

Gene: SCN4A

Linked Data

• COSMIC: COSM36846
• MyVariant Identifiers: chr17:g.62022866T>G (hg19) ; chr17:g.63945506T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63945506T>G , CM000679.2:g.63945506T>G	GRCh38
NC_000017.10:g.62022866T>G , CM000679.1:g.62022866T>G	GRCh37
NC_000017.9:g.59376598T>G	NCBI36
NG_011699.1:g.32413A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3574A>C MANE Select	ENSP00000396320.1:p.Thr1192Pro
ENST00000578147.5:c.3574A>C	ENSP00000463963.1:p.Thr1192Pro
NM_000334.4:c.3574A>C MANE Select	NP_000325.4:p.Thr1192Pro
XM_005257566.3:c.3574A>C	XP_005257623.1:p.Thr1192Pro