Canonical Allele Identifier: CA501348167
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62018950G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941590G>C , CM000679.2:g.63941590G>C GRCh38
NC_000017.10:g.62018950G>C , CM000679.1:g.62018950G>C GRCh37
NC_000017.9:g.59372682G>C NCBI36
NG_011699.1:g.36329C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4692C>G MANE Select ENSP00000396320.1:p.Val1564=
ENST00000578147.5:c.4692C>G ENSP00000463963.1:p.Val1564=
NM_000334.4:c.4692C>G MANE Select NP_000325.4:p.Val1564=
XM_005257566.3:c.4692C>G XP_005257623.1:p.Val1564=