Canonical Allele Identifier: CA400616303
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1908554674

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941995T>A , CM000679.2:g.63941995T>A GRCh38
NC_000017.10:g.62019355T>A , CM000679.1:g.62019355T>A GRCh37
NC_000017.9:g.59373087T>A NCBI36
NG_011699.1:g.35924A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4289-2A>T MANE Select ENSP00000396320.1:n.4289-2A>T
ENST00000578147.5:c.4289-2A>T ENSP00000463963.1:n.4289-2A>T
NM_000334.4:c.4289-2A>T MANE Select NP_000325.4:n.4289-2A>T
XM_005257566.3:c.4289-2A>T XP_005257623.1:n.4289-2A>T