Canonical Allele Identifier: CA291560843

Gene:

Linked Data

• dbSNP Id: rs372833866
• gnomAD v3: 17-50211835-T-G
• gnomAD v4: 17-50211835-T-G
• MyVariant Identifiers: chr17:g.48289196T>G (hg19) ; chr17:g.50211835T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211835T>G , CM000679.2:g.50211835T>G	GRCh38
NC_000017.10:g.48289196T>G , CM000679.1:g.48289196T>G	GRCh37
NC_000017.9:g.45644195T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934838.1:n.43-2000T>G