Canonical Allele Identifier: CA292957662
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs928723561

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63942326_63942327del , CM000679.2:g.63942326_63942327del GRCh38
NC_000017.10:g.62019686_62019687del , CM000679.1:g.62019686_62019687del GRCh37
NC_000017.9:g.59373418_59373419del NCBI36
NG_011699.1:g.35600_35601del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4289-326_4289-325del MANE Select ENSP00000396320.1:n.4289-326_4289-325del
ENST00000578147.5:c.4289-326_4289-325del ENSP00000463963.1:n.4289-326_4289-325del
NM_000334.4:c.4289-326_4289-325del MANE Select NP_000325.4:n.4289-326_4289-325del
XM_005257566.3:c.4289-326_4289-325del XP_005257623.1:n.4289-326_4289-325del