Canonical Allele Identifier: CA985439427

Gene: SCN4A

Linked Data

• dbSNP Id: rs1908567286
• gnomAD v3: 17-63942295-GAAAGAGAC-G
• gnomAD v4: 17-63942295-GAAAGAGAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63942297_63942304del , CM000679.2:g.63942297_63942304del	GRCh38
NC_000017.10:g.62019657_62019664del , CM000679.1:g.62019657_62019664del	GRCh37
NC_000017.9:g.59373389_59373396del	NCBI36
NG_011699.1:g.35616_35623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4289-310_4289-303del MANE Select	ENSP00000396320.1:n.4289-310_4289-303del
ENST00000578147.5:c.4289-310_4289-303del	ENSP00000463963.1:n.4289-310_4289-303del
NM_000334.4:c.4289-310_4289-303del MANE Select	NP_000325.4:n.4289-310_4289-303del
XM_005257566.3:c.4289-310_4289-303del	XP_005257623.1:n.4289-310_4289-303del