Canonical Allele Identifier: CA400639196
Gene: SCN4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63971812A>C , CM000679.2:g.63971812A>C GRCh38
NC_000017.10:g.62049172A>C , CM000679.1:g.62049172A>C GRCh37
NC_000017.9:g.59402904A>C NCBI36
NG_011699.1:g.6107T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.521T>G MANE Select ENSP00000396320.1:p.Ile174Ser
ENST00000578147.5:c.521T>G ENSP00000463963.1:p.Ile174Ser
NM_000334.4:c.521T>G MANE Select NP_000325.4:p.Ile174Ser
XM_005257566.3:c.521T>G XP_005257623.1:p.Ile174Ser