Canonical Allele Identifier: CA626487305

Gene:

Linked Data

• dbSNP Id: rs1408336935
• gnomAD v2: 17-48288930-A-C
• gnomAD v3: 17-50211569-A-C
• gnomAD v4: 17-50211569-A-C
• MyVariant Identifiers: chr17:g.48288930A>C (hg19) ; chr17:g.50211569A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211569A>C , CM000679.2:g.50211569A>C	GRCh38
NC_000017.10:g.48288930A>C , CM000679.1:g.48288930A>C	GRCh37
NC_000017.9:g.45643929A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934838.1:n.42+2163A>C