Canonical Allele Identifier: CA727901184

Gene:

Linked Data

• dbSNP Id: rs1338582690
• gnomAD v3: 17-30237428-G-T
• gnomAD v4: 17-30237428-G-T
• MyVariant Identifiers: chr17:g.28564446G>T (hg19) ; chr17:g.30237428G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237428G>T , CM000679.2:g.30237428G>T	GRCh38
NC_000017.10:g.28564446G>T , CM000679.1:g.28564446G>T	GRCh37
NC_000017.9:g.25588572G>T	NCBI36
NG_011747.2:g.3509C>A

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.166-214G>T
XR_001752824.1:n.281-214G>T