Canonical Allele Identifier: CA10584065

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 243042
• ClinVar RCV Id: RCV000235032 ; RCV001056500 ; RCV002512068 ; RCV003227471
• dbSNP Id: rs879253789
• gnomAD v2: 17-62019282-G-A
• gnomAD v3: 17-63941922-G-A
• gnomAD v4: 17-63941922-G-A
• COSMIC: COSM3403115
• MyVariant Identifiers: chr17:g.62019282G>A (hg19) ; chr17:g.63941922G>A (hg38)
• PubMed: PMID:20301347 ; PMID:26659129

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941922G>A , CM000679.2:g.63941922G>A	GRCh38
NC_000017.10:g.62019282G>A , CM000679.1:g.62019282G>A	GRCh37
NC_000017.9:g.59373014G>A	NCBI36
NG_011699.1:g.35997C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4360C>T MANE Select	ENSP00000396320.1:p.Arg1454Trp
ENST00000578147.5:c.4360C>T	ENSP00000463963.1:p.Arg1454Trp
NM_000334.4:c.4360C>T MANE Select	NP_000325.4:p.Arg1454Trp
XM_005257566.3:c.4360C>T	XP_005257623.1:p.Arg1454Trp