Canonical Allele Identifier: CA985430200
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1908745418
gnomAD v3: 17-63947002-T-TC
gnomAD v4: 17-63947002-T-TC
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63947007dup , CM000679.2:g.63947007dup GRCh38
NC_000017.10:g.62024367dup , CM000679.1:g.62024367dup GRCh37
NC_000017.9:g.59378099dup NCBI36
NG_011699.1:g.30916dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3441+42dup MANE Select ENSP00000396320.1:n.3441+42dup
ENST00000578147.5:c.3441+42dup ENSP00000463963.1:n.3441+42dup
NM_000334.4:c.3441+42dup MANE Select NP_000325.4:n.3441+42dup
XM_005257566.3:c.3441+42dup XP_005257623.1:n.3441+42dup
Search 100 bp 5'
Search 100 bp 3'