Canonical Allele Identifier: CA772782727

Gene:

Linked Data

• dbSNP Id: rs1412896968
• gnomAD v3: 17-50211852-A-G
• gnomAD v4: 17-50211852-A-G
• MyVariant Identifiers: chr17:g.48289213A>G (hg19) ; chr17:g.50211852A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211852A>G , CM000679.2:g.50211852A>G	GRCh38
NC_000017.10:g.48289213A>G , CM000679.1:g.48289213A>G	GRCh37
NC_000017.9:g.45644212A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934838.1:n.43-1983A>G