Canonical Allele Identifier: CA985428266
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1908646050
gnomAD v3: 17-63944399-C-CCGCCT
gnomAD v4: 17-63944399-C-CCGCCT
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63944402_63944406dup , CM000679.2:g.63944402_63944406dup GRCh38
NC_000017.10:g.62021762_62021766dup , CM000679.1:g.62021762_62021766dup GRCh37
NC_000017.9:g.59375494_59375498dup NCBI36
NG_011699.1:g.33515_33519dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3912+269_3912+273dup MANE Select ENSP00000396320.1:n.3912+269_3912+273dup
ENST00000578147.5:c.3916+265_3916+269dup ENSP00000463963.1:n.3916+265_3916+269dup
NM_000334.4:c.3912+269_3912+273dup MANE Select NP_000325.4:n.3912+269_3912+273dup
XM_005257566.3:c.3912+269_3912+273dup XP_005257623.1:n.3912+269_3912+273dup
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