Canonical Allele Identifier: CA2639307725
Gene: SCN4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63942019C>T , CM000679.2:g.63942019C>T GRCh38
NC_000017.10:g.62019379C>T , CM000679.1:g.62019379C>T GRCh37
NC_000017.9:g.59373111C>T NCBI36
NG_011699.1:g.35900G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4289-26G>A MANE Select ENSP00000396320.1:n.4289-26G>A
ENST00000578147.5:c.4289-26G>A ENSP00000463963.1:n.4289-26G>A
NM_000334.4:c.4289-26G>A MANE Select NP_000325.4:n.4289-26G>A
XM_005257566.3:c.4289-26G>A XP_005257623.1:n.4289-26G>A