Canonical Allele Identifier: CA291560773

Gene:

Linked Data

• dbSNP Id: rs996773890
• gnomAD v3: 17-50211656-G-C
• gnomAD v4: 17-50211656-G-C
• MyVariant Identifiers: chr17:g.48289017G>C (hg19) ; chr17:g.50211656G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211656G>C , CM000679.2:g.50211656G>C	GRCh38
NC_000017.10:g.48289017G>C , CM000679.1:g.48289017G>C	GRCh37
NC_000017.9:g.45644016G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934838.1:n.43-2179G>C