Canonical Allele Identifier: CA8710223
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs758439984
ExAC: 17:62049873 AGGCAGACAGATGGATGGAT / A
gnomAD v2: 17-62049873-AGGCAGACAGATGGATGGAT-A
gnomAD v3: 17-63972513-AGGCAGACAGATGGATGGAT-A
gnomAD v4: 17-63972513-AGGCAGACAGATGGATGGAT-A
MyVariant Identifiers: chr17:g.62049874_62049892del (hg19) chr17:g.63972514_63972532del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63972524_63972542del , CM000679.2:g.63972524_63972542del GRCh38
NC_000017.10:g.62049884_62049902del , CM000679.1:g.62049884_62049902del GRCh37
NC_000017.9:g.59403616_59403634del NCBI36
NG_011699.1:g.5387_5405del

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.273+37_274-44del MANE Select ENSP00000396320.1:n.273+37_274-44del
ENST00000578147.5:c.273+37_274-44del ENSP00000463963.1:n.273+37_274-44del
NM_000334.4:c.273+37_274-44del MANE Select NP_000325.4:n.273+37_274-44del
XM_005257566.3:c.273+37_274-44del XP_005257623.1:n.273+37_274-44del
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