Canonical Allele Identifier: CA322555662

Gene:

Linked Data

• dbSNP Id: rs551500826
• gnomAD v2: 22-23915258-C-G
• gnomAD v3: 22-23573071-C-G
• gnomAD v4: 22-23573071-C-G
• MyVariant Identifiers: chr22:g.23915258C>G (hg19) ; chr22:g.23573071C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573071C>G , CM000684.2:g.23573071C>G	GRCh38
NC_000022.10:g.23915258C>G , CM000684.1:g.23915258C>G	GRCh37
NC_000022.9:g.22245258C>G	NCBI36
NG_009791.1:g.12238G>C , LRG_69:g.12238G>C

Transcript Alleles

HGVS	Amino-acid Change
XR_938075.1:n.712C>G
XR_938076.1:n.777C>G
XR_938078.1:n.676C>G
XR_938079.1:n.569C>G
XR_938075.2:n.1296C>G
XR_938078.2:n.1260C>G