Canonical Allele Identifier: CA727901160

Gene:

Linked Data

• dbSNP Id: rs1291806735
• gnomAD v3: 17-30237394-A-C
• gnomAD v4: 17-30237394-A-C
• MyVariant Identifiers: chr17:g.28564412A>C (hg19) ; chr17:g.30237394A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237394A>C , CM000679.2:g.30237394A>C	GRCh38
NC_000017.10:g.28564412A>C , CM000679.1:g.28564412A>C	GRCh37
NC_000017.9:g.25588538A>C	NCBI36
NG_011747.2:g.3543T>G

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.166-248A>C
XR_001752824.1:n.281-248A>C