Canonical Allele Identifier: CA10646430

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324482
• ClinVar RCV Id: RCV000276172 ; RCV000307931 ; RCV000312759 ; RCV000370722 ; RCV000394140
• dbSNP Id: rs544883913
• gnomAD v2: 17-62016807-A-G
• gnomAD v3: 17-63939447-A-G
• gnomAD v4: 17-63939447-A-G
• MyVariant Identifiers: chr17:g.62016807A>G (hg19) ; chr17:g.63939447A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63939447A>G , CM000679.2:g.63939447A>G	GRCh38
NC_000017.10:g.62016807A>G , CM000679.1:g.62016807A>G	GRCh37
NC_000017.9:g.59370539A>G	NCBI36
NG_011699.1:g.38472T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.*1324T>C MANE Select	ENSP00000396320.1:n.*1324T>C
ENST00000578147.5:c.*1324T>C	ENSP00000463963.1:n.*1324T>C
NM_000334.4:c.*1324T>C MANE Select	NP_000325.4:n.*1324T>C
XM_005257566.3:c.*1324T>C	XP_005257623.1:n.*1324T>C