Canonical Allele Identifier: CA400616170

Gene: SCN4A

Linked Data

• dbSNP Id: rs1308424220
• gnomAD v2: 17-62019287-A-G
• gnomAD v4: 17-63941927-A-G
• MyVariant Identifiers: chr17:g.62019287A>G (hg19) ; chr17:g.63941927A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941927A>G , CM000679.2:g.63941927A>G	GRCh38
NC_000017.10:g.62019287A>G , CM000679.1:g.62019287A>G	GRCh37
NC_000017.9:g.59373019A>G	NCBI36
NG_011699.1:g.35992T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4355T>C MANE Select	ENSP00000396320.1:p.Leu1452Pro
ENST00000578147.5:c.4355T>C	ENSP00000463963.1:p.Leu1452Pro
NM_000334.4:c.4355T>C MANE Select	NP_000325.4:p.Leu1452Pro
XM_005257566.3:c.4355T>C	XP_005257623.1:p.Leu1452Pro