Canonical Allele Identifier: CA919876629
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1598404754
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941021_63941025del , CM000679.2:g.63941021_63941025del GRCh38
NC_000017.10:g.62018381_62018385del , CM000679.1:g.62018381_62018385del GRCh37
NC_000017.9:g.59372113_59372117del NCBI36
NG_011699.1:g.36894_36898del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5257_5261del MANE Select ENSP00000396320.1:p.Met1753ProfsTer10
ENST00000578147.5:c.5257_5261del ENSP00000463963.1:p.Met1753ProfsTer10
NM_000334.4:c.5257_5261del MANE Select NP_000325.4:p.Met1753ProfsTer10
XM_005257566.3:c.5257_5261del XP_005257623.1:p.Met1753ProfsTer10
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