Canonical Allele Identifier: CA774010221

Gene: SCN4A

Linked Data

• dbSNP Id: rs1156608205
• gnomAD v3: 17-63947194-TGCGTGCAAGGCCCCCA-T
• gnomAD v4: 17-63947194-TGCGTGCAAGGCCCCCA-T
• MyVariant Identifiers: chr17:g.62024555_62024570del (hg19) ; chr17:g.63947195_63947210del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63947197_63947212del , CM000679.2:g.63947197_63947212del	GRCh38
NC_000017.10:g.62024557_62024572del , CM000679.1:g.62024557_62024572del	GRCh37
NC_000017.9:g.59378289_59378304del	NCBI36
NG_011699.1:g.30709_30724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3319-43_3319-28del MANE Select	ENSP00000396320.1:n.3319-43_3319-28del
ENST00000578147.5:c.3319-43_3319-28del	ENSP00000463963.1:n.3319-43_3319-28del
NM_000334.4:c.3319-43_3319-28del MANE Select	NP_000325.4:n.3319-43_3319-28del
XM_005257566.3:c.3319-43_3319-28del	XP_005257623.1:n.3319-43_3319-28del