Canonical Allele Identifier: CA292959115
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs918992269
gnomAD v3: 17-63944319-A-AT
gnomAD v4: 17-63944319-A-AT
MyVariant Identifiers: chr17:g.62021679_62021680insT (hg19) chr17:g.63944319_63944320insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63944327dup , CM000679.2:g.63944327dup GRCh38
NC_000017.10:g.62021687dup , CM000679.1:g.62021687dup GRCh37
NC_000017.9:g.59375419dup NCBI36
NG_011699.1:g.33599dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3912+353dup MANE Select ENSP00000396320.1:n.3912+353dup
ENST00000578147.5:c.3916+349dup ENSP00000463963.1:n.3916+349dup
NM_000334.4:c.3912+353dup MANE Select NP_000325.4:n.3912+353dup
XM_005257566.3:c.3912+353dup XP_005257623.1:n.3912+353dup
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