Canonical Allele Identifier: CA322555669

Gene:

Linked Data

• dbSNP Id: rs190473683
• gnomAD v2: 22-23915271-C-T
• gnomAD v3: 22-23573084-C-T
• gnomAD v4: 22-23573084-C-T
• MyVariant Identifiers: chr22:g.23915271C>T (hg19) ; chr22:g.23573084C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573084C>T , CM000684.2:g.23573084C>T	GRCh38
NC_000022.10:g.23915271C>T , CM000684.1:g.23915271C>T	GRCh37
NC_000022.9:g.22245271C>T	NCBI36
NG_009791.1:g.12225G>A , LRG_69:g.12225G>A

Transcript Alleles

HGVS	Amino-acid Change
XR_938078.1:n.689C>T
XR_938078.2:n.1273C>T