Canonical Allele Identifier: CA625447404

Gene:

Linked Data

• dbSNP Id: rs1421780628
• gnomAD v2: 17-28564172-C-T
• gnomAD v3: 17-30237154-C-T
• gnomAD v4: 17-30237154-C-T
• MyVariant Identifiers: chr17:g.28564172C>T (hg19) ; chr17:g.28564172_28564193delinsTGGGGGTGCATGGGGGGATGCT (hg19) ; chr17:g.30237154C>T (hg38) ; chr17:g.30237154_30237175delinsTGGGGGTGCATGGGGGGATGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237154C>T , CM000679.2:g.30237154C>T	GRCh38
NC_000017.10:g.28564172C>T , CM000679.1:g.28564172C>T	GRCh37
NC_000017.9:g.25588298C>T	NCBI36
NG_011747.2:g.3783G>A

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+84C>T
XR_001752824.1:n.280+84C>T