Canonical Allele Identifier: CA16080000
Gene:

Linked Data

dbSNP Id: rs7530302
gnomAD v2: 1-220664952-G-A
gnomAD v3: 1-220491610-G-A
gnomAD v4: 1-220491610-G-A
MyVariant Identifiers: chr1:g.220664952G>A (hg19) chr1:g.220491610G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220491610G>A , CM000663.2:g.220491610G>A GRCh38
NC_000001.10:g.220664952G>A , CM000663.1:g.220664952G>A GRCh37
NC_000001.9:g.218731575G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_922615.1:n.256-624G>A
XR_001737822.1:n.557-624G>A
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