Canonical Allele Identifier: CA89721294
Gene:

Linked Data

dbSNP Id: rs144596911
gnomAD v2: 3-190004310-G-A
gnomAD v3: 3-190286521-G-A
gnomAD v4: 3-190286521-G-A
MyVariant Identifiers: chr3:g.190004310G>A (hg19) chr3:g.190286521G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190286521G>A , CM000665.2:g.190286521G>A GRCh38
NC_000003.11:g.190004310G>A , CM000665.1:g.190004310G>A GRCh37
NC_000003.10:g.191487004G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001741069.1:n.89-3957G>A
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