Canonical Allele Identifier: CA727901051

Gene:

Linked Data

• dbSNP Id: rs1378787577
• gnomAD v3: 17-30237291-T-G
• gnomAD v4: 17-30237291-T-G
• MyVariant Identifiers: chr17:g.28564309T>G (hg19) ; chr17:g.30237291T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237291T>G , CM000679.2:g.30237291T>G	GRCh38
NC_000017.10:g.28564309T>G , CM000679.1:g.28564309T>G	GRCh37
NC_000017.9:g.25588435T>G	NCBI36
NG_011747.2:g.3646A>C

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+221T>G
XR_001752824.1:n.280+221T>G