Canonical Allele Identifier: CA8708911

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324515
• ClinVar RCV Id: RCV000310505 ; RCV000341016 ; RCV000365211 ; RCV000406650 ; RCV000408216 ; RCV002524435
• dbSNP Id: rs531658524
• ExAC: 17:62018933 T / C
• gnomAD v2: 17-62018933-T-C
• gnomAD v3: 17-63941573-T-C
• gnomAD v4: 17-63941573-T-C
• COSMIC: COSM5604800
• MyVariant Identifiers: chr17:g.62018933T>C (hg19) ; chr17:g.63941573T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941573T>C , CM000679.2:g.63941573T>C	GRCh38
NC_000017.10:g.62018933T>C , CM000679.1:g.62018933T>C	GRCh37
NC_000017.9:g.59372665T>C	NCBI36
NG_011699.1:g.36346A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4709A>G MANE Select	ENSP00000396320.1:p.Asn1570Ser
ENST00000578147.5:c.4709A>G	ENSP00000463963.1:p.Asn1570Ser
NM_000334.4:c.4709A>G MANE Select	NP_000325.4:p.Asn1570Ser
XM_005257566.3:c.4709A>G	XP_005257623.1:p.Asn1570Ser