Canonical Allele Identifier: CA8710230
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs746971044
ExAC: 17:62049906 AG / A
gnomAD v2: 17-62049906-AG-A
gnomAD v3: 17-63972546-AG-A
gnomAD v4: 17-63972546-AG-A
MyVariant Identifiers: chr17:g.62049907del (hg19) chr17:g.63972547del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63972548del , CM000679.2:g.63972548del GRCh38
NC_000017.10:g.62049908del , CM000679.1:g.62049908del GRCh37
NC_000017.9:g.59403640del NCBI36
NG_011699.1:g.5372del

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.273+22del MANE Select ENSP00000396320.1:n.273+22del
ENST00000578147.5:c.273+22del ENSP00000463963.1:n.273+22del
NM_000334.4:c.273+22del MANE Select NP_000325.4:n.273+22del
XM_005257566.3:c.273+22del XP_005257623.1:n.273+22del
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