Canonical Allele Identifier: CA742240636

Gene:

Linked Data

• dbSNP Id: rs1176674561
• gnomAD v3: 20-23661788-C-T
• gnomAD v4: 20-23661788-C-T
• MyVariant Identifiers: chr20:g.23642425C>T (hg19) ; chr20:g.23661788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23661788C>T , CM000682.2:g.23661788C>T	GRCh38
NC_000020.10:g.23642425C>T , CM000682.1:g.23642425C>T	GRCh37
NC_000020.9:g.23590425C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001754712.1:n.280+138C>T