Canonical Allele Identifier: CA627150699

Gene: SCN4A

Linked Data

• dbSNP Id: rs1281527288
• gnomAD v2: 17-62049211-CTGGGGGGG-C
• gnomAD v3: 17-63971851-CTGGGGGGG-C
• gnomAD v4: 17-63971851-CTGGGGGGG-C
• MyVariant Identifiers: chr17:g.62049212_62049219del (hg19) ; chr17:g.63971852_63971859del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63971852_63971859del , CM000679.2:g.63971852_63971859del	GRCh38
NC_000017.10:g.62049212_62049219del , CM000679.1:g.62049212_62049219del	GRCh37
NC_000017.9:g.59402944_59402951del	NCBI36
NG_011699.1:g.6060_6067del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.483-9_483-2del MANE Select	ENSP00000396320.1:n.483-9_483-2del
ENST00000578147.5:c.483-9_483-2del	ENSP00000463963.1:n.483-9_483-2del
NM_000334.4:c.483-9_483-2del MANE Select	NP_000325.4:n.483-9_483-2del
XM_005257566.3:c.483-9_483-2del	XP_005257623.1:n.483-9_483-2del