Canonical Allele Identifier: CA14848152

Gene:

Linked Data

• dbSNP Id: rs13040731
• gnomAD v2: 20-23642389-T-C
• gnomAD v3: 20-23661752-T-C
• gnomAD v4: 20-23661752-T-C
• MyVariant Identifiers: chr20:g.23642389T>C (hg19) ; chr20:g.23661752T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23661752T>C , CM000682.2:g.23661752T>C	GRCh38
NC_000020.10:g.23642389T>C , CM000682.1:g.23642389T>C	GRCh37
NC_000020.9:g.23590389T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001754712.1:n.280+102T>C