Canonical Allele Identifier: CA8708953

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 967828
• ClinVar RCV Id: RCV001242831 ; RCV001840794 ; RCV002504346 ; RCV003987810 ; RCV004545146
• dbSNP Id: rs114900922
• ExAC: 17:62019134 T / C
• gnomAD v2: 17-62019134-T-C
• gnomAD v3: 17-63941774-T-C
• gnomAD v4: 17-63941774-T-C
• MyVariant Identifiers: chr17:g.62019134T>C (hg19) ; chr17:g.63941774T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941774T>C , CM000679.2:g.63941774T>C	GRCh38
NC_000017.10:g.62019134T>C , CM000679.1:g.62019134T>C	GRCh37
NC_000017.9:g.59372866T>C	NCBI36
NG_011699.1:g.36145A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4508A>G MANE Select	ENSP00000396320.1:p.Asn1503Ser
ENST00000578147.5:c.4508A>G	ENSP00000463963.1:p.Asn1503Ser
NM_000334.4:c.4508A>G MANE Select	NP_000325.4:p.Asn1503Ser
XM_005257566.3:c.4508A>G	XP_005257623.1:p.Asn1503Ser