Canonical Allele Identifier: CA8709629

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324535
• ClinVar RCV Id: RCV000285375 ; RCV000322288 ; RCV000344921 ; RCV000380879 ; RCV000379780
• dbSNP Id: rs375596512
• ExAC: 17:62034642 G / A
• gnomAD v2: 17-62034642-G-A
• gnomAD v3: 17-63957282-G-A
• gnomAD v4: 17-63957282-G-A
• COSMIC: COSM3520896
• MyVariant Identifiers: chr17:g.62034642G>A (hg19) ; chr17:g.63957282G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63957282G>A , CM000679.2:g.63957282G>A	GRCh38
NC_000017.10:g.62034642G>A , CM000679.1:g.62034642G>A	GRCh37
NC_000017.9:g.59388374G>A	NCBI36
NG_011699.1:g.20637C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.2256C>T MANE Select	ENSP00000396320.1:p.Leu752=
ENST00000578147.5:c.2256C>T	ENSP00000463963.1:p.Leu752=
NM_000334.4:c.2256C>T MANE Select	NP_000325.4:p.Leu752=
XM_005257566.3:c.2256C>T	XP_005257623.1:p.Leu752=