Canonical Allele Identifier: CA727901137

Gene:

Linked Data

• dbSNP Id: rs1489024101
• gnomAD v3: 17-30237371-A-G
• gnomAD v4: 17-30237371-A-G
• MyVariant Identifiers: chr17:g.28564389A>G (hg19) ; chr17:g.30237371A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237371A>G , CM000679.2:g.30237371A>G	GRCh38
NC_000017.10:g.28564389A>G , CM000679.1:g.28564389A>G	GRCh37
NC_000017.9:g.25588515A>G	NCBI36
NG_011747.2:g.3566T>C

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.166-271A>G
XR_001752824.1:n.281-271A>G