Canonical Allele Identifier: CA727901095

Gene:

Linked Data

• dbSNP Id: rs56011579
• gnomAD v3: 17-30237327-C-T
• gnomAD v4: 17-30237327-C-T
• MyVariant Identifiers: chr17:g.28564345C>T (hg19) ; chr17:g.30237327C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237327C>T , CM000679.2:g.30237327C>T	GRCh38
NC_000017.10:g.28564345C>T , CM000679.1:g.28564345C>T	GRCh37
NC_000017.9:g.25588471C>T	NCBI36
NG_011747.2:g.3610G>A

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+257C>T
XR_001752824.1:n.280+257C>T