Canonical Allele Identifier: CA626861008
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1567817572
gnomAD v2: 17-62021677-T-TA
gnomAD v3: 17-63944317-T-TA
gnomAD v4: 17-63944317-T-TA
MyVariant Identifiers: chr17:g.62021677_62021678insA (hg19) chr17:g.63944317_63944318insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63944319dup , CM000679.2:g.63944319dup GRCh38
NC_000017.10:g.62021679dup , CM000679.1:g.62021679dup GRCh37
NC_000017.9:g.59375411dup NCBI36
NG_011699.1:g.33601dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3912+355dup MANE Select ENSP00000396320.1:n.3912+355dup
ENST00000578147.5:c.3916+351dup ENSP00000463963.1:n.3916+351dup
NM_000334.4:c.3912+355dup MANE Select NP_000325.4:n.3912+355dup
XM_005257566.3:c.3912+355dup XP_005257623.1:n.3912+355dup
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