Canonical Allele Identifier: CA727901113

Gene:

Linked Data

• dbSNP Id: rs1339894027
• gnomAD v3: 17-30237348-C-T
• gnomAD v4: 17-30237348-C-T
• MyVariant Identifiers: chr17:g.28564366C>T (hg19) ; chr17:g.30237348C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237348C>T , CM000679.2:g.30237348C>T	GRCh38
NC_000017.10:g.28564366C>T , CM000679.1:g.28564366C>T	GRCh37
NC_000017.9:g.25588492C>T	NCBI36
NG_011747.2:g.3589G>A

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+278C>T
XR_001752824.1:n.280+278C>T