Canonical Allele Identifier: CA626860777
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs981527515

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63942315_63942316dup , CM000679.2:g.63942315_63942316dup GRCh38
NC_000017.10:g.62019675_62019676dup , CM000679.1:g.62019675_62019676dup GRCh37
NC_000017.9:g.59373407_59373408dup NCBI36
NG_011699.1:g.35614_35615dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4289-312_4289-311dup MANE Select ENSP00000396320.1:n.4289-312_4289-311dup
ENST00000578147.5:c.4289-312_4289-311dup ENSP00000463963.1:n.4289-312_4289-311dup
NM_000334.4:c.4289-312_4289-311dup MANE Select NP_000325.4:n.4289-312_4289-311dup
XM_005257566.3:c.4289-312_4289-311dup XP_005257623.1:n.4289-312_4289-311dup