Canonical Allele Identifier: CA2739268304
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2896596
ClinVar RCV Id: RCV003617253
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63959275_63959276delinsCT , CM000679.2:g.63959275_63959276delinsCT GRCh38
NC_000017.10:g.62036635_62036636delinsCT , CM000679.1:g.62036635_62036636delinsCT GRCh37
NC_000017.9:g.59390367_59390368delinsCT NCBI36
NG_011699.1:g.18643_18644delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.2008_2009delinsAG MANE Select ENSP00000396320.1:p.Ser670=
ENST00000578147.5:c.2008_2009delinsAG ENSP00000463963.1:p.Ser670=
NM_000334.4:c.2008_2009delinsAG MANE Select NP_000325.4:p.Ser670=
XM_005257566.3:c.2008_2009delinsAG XP_005257623.1:p.Ser670=
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