Canonical Allele Identifier: CA627150686
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1454534408
gnomAD v2: 17-62049200-TGAA-T
gnomAD v3: 17-63971840-TGAA-T
gnomAD v4: 17-63971840-TGAA-T
MyVariant Identifiers: chr17:g.62049201_62049203del (hg19) chr17:g.63971841_63971843del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63971842_63971844del , CM000679.2:g.63971842_63971844del GRCh38
NC_000017.10:g.62049202_62049204del , CM000679.1:g.62049202_62049204del GRCh37
NC_000017.9:g.59402934_59402936del NCBI36
NG_011699.1:g.6076_6078del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.490_492del MANE Select ENSP00000396320.1:p.Phe164del
ENST00000578147.5:c.490_492del ENSP00000463963.1:p.Phe164del
NM_000334.4:c.490_492del MANE Select NP_000325.4:p.Phe164del
XM_005257566.3:c.490_492del XP_005257623.1:p.Phe164del
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