Canonical Allele Identifier: CA400613833
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62018501G>T (hg19) chr17:g.63941141G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941141G>T , CM000679.2:g.63941141G>T GRCh38
NC_000017.10:g.62018501G>T , CM000679.1:g.62018501G>T GRCh37
NC_000017.9:g.59372233G>T NCBI36
NG_011699.1:g.36778C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5141C>A MANE Select ENSP00000396320.1:p.Ser1714Tyr
ENST00000578147.5:c.5141C>A ENSP00000463963.1:p.Ser1714Tyr
NM_000334.4:c.5141C>A MANE Select NP_000325.4:p.Ser1714Tyr
XM_005257566.3:c.5141C>A XP_005257623.1:p.Ser1714Tyr
Search 100 bp 5'
Search 100 bp 3'