Canonical Allele Identifier: CA734382559

Gene:

Linked Data

• dbSNP Id: rs1457656789
• gnomAD v3: 1-2567457-C-G
• gnomAD v4: 1-2567457-C-G
• MyVariant Identifiers: chr1:g.2498896C>G (hg19) ; chr1:g.2567457C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2567457C>G , CM000663.2:g.2567457C>G	GRCh38
NC_000001.10:g.2498896C>G , CM000663.1:g.2498896C>G	GRCh37
NC_000001.9:g.2475522G>C	NCBI36
NG_047096.1:g.16093C>G

Transcript Alleles

HGVS	Amino-acid change
NR_121638.1:n.71+852C>G