Canonical Allele Identifier: CA732182692

Gene:

Linked Data

• dbSNP Id: rs1387657547
• gnomAD v3: 1-224886989-C-G
• gnomAD v4: 1-224886989-C-G
• MyVariant Identifiers: chr1:g.225074691C>G (hg19) ; chr1:g.224886989C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.224886989C>G , CM000663.2:g.224886989C>G	GRCh38
NC_000001.10:g.225074691C>G , CM000663.1:g.225074691C>G	GRCh37
NC_000001.9:g.223141314C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_949207.1:n.66-2208G>C
XR_949207.2:n.63-2208G>C