Canonical Allele Identifier: CA38657627

Gene:

Linked Data

• dbSNP Id: rs917777885
• gnomAD v3: 1-224068617-C-A
• gnomAD v4: 1-224068617-C-A
• MyVariant Identifiers: chr1:g.224256319C>A (hg19) ; chr1:g.224068617C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.224068617C>A , CM000663.2:g.224068617C>A	GRCh38
NC_000001.10:g.224256319C>A , CM000663.1:g.224256319C>A	GRCh37
NC_000001.9:g.222322942C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949173.1:n.385+963C>A
XR_001737824.1:n.242+963C>A