Canonical Allele Identifier: CA8708788

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324507
• ClinVar RCV Id: RCV000284690 ; RCV000279048 ; RCV000339663 ; RCV000379267 ; RCV000517790 ; RCV000874919
• dbSNP Id: rs531694454
• ExAC: 17:62018349 C / T
• gnomAD v2: 17-62018349-C-T
• gnomAD v3: 17-63940989-C-T
• gnomAD v4: 17-63940989-C-T
• COSMIC: COSM982763
• MyVariant Identifiers: chr17:g.62018349C>T (hg19) ; chr17:g.63940989C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63940989C>T , CM000679.2:g.63940989C>T	GRCh38
NC_000017.10:g.62018349C>T , CM000679.1:g.62018349C>T	GRCh37
NC_000017.9:g.59372081C>T	NCBI36
NG_011699.1:g.36930G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.5293G>A MANE Select	ENSP00000396320.1:p.Ala1765Thr
ENST00000578147.5:c.5293G>A	ENSP00000463963.1:p.Ala1765Thr
NM_000334.4:c.5293G>A MANE Select	NP_000325.4:p.Ala1765Thr
XM_005257566.3:c.5293G>A	XP_005257623.1:p.Ala1765Thr