Canonical Allele Identifier: CA400616145
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62019270C>T (hg19) chr17:g.63941910C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941910C>T , CM000679.2:g.63941910C>T GRCh38
NC_000017.10:g.62019270C>T , CM000679.1:g.62019270C>T GRCh37
NC_000017.9:g.59373002C>T NCBI36
NG_011699.1:g.36009G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4372G>A MANE Select ENSP00000396320.1:p.Val1458Ile
ENST00000578147.5:c.4372G>A ENSP00000463963.1:p.Val1458Ile
NM_000334.4:c.4372G>A MANE Select NP_000325.4:p.Val1458Ile
XM_005257566.3:c.4372G>A XP_005257623.1:p.Val1458Ile
Search 100 bp 5'
Search 100 bp 3'