Canonical Allele Identifier: CA8709062

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324520
• ClinVar RCV Id: RCV000279601 ; RCV000281184 ; RCV000338105 ; RCV000371720 ; RCV000702745 ; RCV000713105 ; RCV002523000
• dbSNP Id: rs545724550
• ExAC: 17:62020422 G / A
• gnomAD v2: 17-62020422-G-A
• gnomAD v3: 17-63943062-G-A
• gnomAD v4: 17-63943062-G-A
• COSMIC: COSM1224867
• MyVariant Identifiers: chr17:g.62020422G>A (hg19) ; chr17:g.63943062G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63943062G>A , CM000679.2:g.63943062G>A	GRCh38
NC_000017.10:g.62020422G>A , CM000679.1:g.62020422G>A	GRCh37
NC_000017.9:g.59374154G>A	NCBI36
NG_011699.1:g.34857C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4052C>T MANE Select	ENSP00000396320.1:p.Thr1351Met
ENST00000578147.5:c.4052C>T	ENSP00000463963.1:p.Thr1351Met
NM_000334.4:c.4052C>T MANE Select	NP_000325.4:p.Thr1351Met
XM_005257566.3:c.4052C>T	XP_005257623.1:p.Thr1351Met