Canonical Allele Identifier: CA727900708

Gene:

Linked Data

• dbSNP Id: rs1395135512
• gnomAD v3: 17-30237146-G-C
• gnomAD v4: 17-30237146-G-C
• MyVariant Identifiers: chr17:g.28564164G>C (hg19) ; chr17:g.30237146G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237146G>C , CM000679.2:g.30237146G>C	GRCh38
NC_000017.10:g.28564164G>C , CM000679.1:g.28564164G>C	GRCh37
NC_000017.9:g.25588290G>C	NCBI36
NG_011747.2:g.3791C>G

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+76G>C
XR_001752824.1:n.280+76G>C