Canonical Allele Identifier: CA400615912
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 1470017
ClinVar RCV Id: RCV001973155
dbSNP Id: rs2144774561
MyVariant Identifiers: chr17:g.62019152G>T (hg19) chr17:g.63941792G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941792G>T , CM000679.2:g.63941792G>T GRCh38
NC_000017.10:g.62019152G>T , CM000679.1:g.62019152G>T GRCh37
NC_000017.9:g.59372884G>T NCBI36
NG_011699.1:g.36127C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4490C>A MANE Select ENSP00000396320.1:p.Ser1497Tyr
ENST00000578147.5:c.4490C>A ENSP00000463963.1:p.Ser1497Tyr
NM_000334.4:c.4490C>A MANE Select NP_000325.4:p.Ser1497Tyr
XM_005257566.3:c.4490C>A XP_005257623.1:p.Ser1497Tyr
Search 100 bp 5'
Search 100 bp 3'