Canonical Allele Identifier: CA400638928
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1216577095

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63971744C>T , CM000679.2:g.63971744C>T GRCh38
NC_000017.10:g.62049104C>T , CM000679.1:g.62049104C>T GRCh37
NC_000017.9:g.59402836C>T NCBI36
NG_011699.1:g.6175G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.589G>A MANE Select ENSP00000396320.1:p.Asp197Asn
ENST00000578147.5:c.589G>A ENSP00000463963.1:p.Asp197Asn
NM_000334.4:c.589G>A MANE Select NP_000325.4:p.Asp197Asn
XM_005257566.3:c.589G>A XP_005257623.1:p.Asp197Asn