Canonical Allele Identifier: CA8709989

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 252477
• ClinVar RCV Id: RCV000239078 ; RCV000300244 ; RCV000400595 ; RCV000338802 ; RCV000303708 ; RCV000624799 ; RCV000713127 ; RCV001082389
• dbSNP Id: rs199676994
• ExAC: 17:62045467 A / G
• gnomAD v2: 17-62045467-A-G
• gnomAD v3: 17-63968107-A-G
• gnomAD v4: 17-63968107-A-G
• MyVariant Identifiers: chr17:g.62045467A>G (hg19) ; chr17:g.63968107A>G (hg38)
• PubMed: PMID:10944223 ; PMID:15482957 ; PMID:19118277 ; PMID:25839108 ; PMID:26427606 ; PMID:26484179 ; PMID:26700687

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63968107A>G , CM000679.2:g.63968107A>G	GRCh38
NC_000017.10:g.62045467A>G , CM000679.1:g.62045467A>G	GRCh37
NC_000017.9:g.59399199A>G	NCBI36
NG_011699.1:g.9812T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.952T>C MANE Select	ENSP00000396320.1:p.Trp318Arg
ENST00000578147.5:c.952T>C	ENSP00000463963.1:p.Trp318Arg
NM_000334.4:c.952T>C MANE Select	NP_000325.4:p.Trp318Arg
XM_005257566.3:c.952T>C	XP_005257623.1:p.Trp318Arg