Canonical Allele Identifier: CA732115290

Gene:

Linked Data

• dbSNP Id: rs1227906977
• gnomAD v3: 1-224068665-G-A
• gnomAD v4: 1-224068665-G-A
• MyVariant Identifiers: chr1:g.224256367G>A (hg19) ; chr1:g.224068665G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.224068665G>A , CM000663.2:g.224068665G>A	GRCh38
NC_000001.10:g.224256367G>A , CM000663.1:g.224256367G>A	GRCh37
NC_000001.9:g.222322990G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949173.1:n.385+1011G>A
XR_001737824.1:n.242+1011G>A