Canonical Allele Identifier: CA625447503

Gene:

Linked Data

• dbSNP Id: rs1459990514
• gnomAD v2: 17-28564399-C-A
• gnomAD v3: 17-30237381-C-A
• gnomAD v4: 17-30237381-C-A
• MyVariant Identifiers: chr17:g.28564399C>A (hg19) ; chr17:g.30237381C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237381C>A , CM000679.2:g.30237381C>A	GRCh38
NC_000017.10:g.28564399C>A , CM000679.1:g.28564399C>A	GRCh37
NC_000017.9:g.25588525C>A	NCBI36
NG_011747.2:g.3556G>T

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.166-261C>A
XR_001752824.1:n.281-261C>A