Canonical Allele Identifier: CA2270175632
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1909624759
gnomAD v4: 17-63971967-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63971967A>G , CM000679.2:g.63971967A>G GRCh38
NC_000017.10:g.62049327A>G , CM000679.1:g.62049327A>G GRCh37
NC_000017.9:g.59403059A>G NCBI36
NG_011699.1:g.5952T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.483-117T>C MANE Select ENSP00000396320.1:n.483-117T>C
ENST00000578147.5:c.483-117T>C ENSP00000463963.1:n.483-117T>C
NM_000334.4:c.483-117T>C MANE Select NP_000325.4:n.483-117T>C
XM_005257566.3:c.483-117T>C XP_005257623.1:n.483-117T>C
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