Canonical Allele Identifier: CA627150290
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1567817987
MyVariant Identifiers: chr17:g.62022699del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945342del , CM000679.2:g.63945342del GRCh38
NC_000017.10:g.62022702del , CM000679.1:g.62022702del GRCh37
NC_000017.9:g.59376434del NCBI36
NG_011699.1:g.32580del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3720+21del MANE Select ENSP00000396320.1:n.3720+21del
ENST00000578147.5:c.3720+21del ENSP00000463963.1:n.3720+21del
NM_000334.4:c.3720+21del MANE Select NP_000325.4:n.3720+21del
XM_005257566.3:c.3720+21del XP_005257623.1:n.3720+21del