Canonical Allele Identifier: CA222002625

Gene:

Linked Data

• dbSNP Id: rs542029413
• gnomAD v2: 11-45528135-T-C
• gnomAD v3: 11-45506585-T-C
• gnomAD v4: 11-45506585-T-C
• MyVariant Identifiers: chr11:g.45528135T>C (hg19) ; chr11:g.45506585T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45506585T>C , CM000673.2:g.45506585T>C	GRCh38
NC_000011.9:g.45528135T>C , CM000673.1:g.45528135T>C	GRCh37
NC_000011.8:g.45484711T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001748204.2:n.909-16814A>G
XR_931245.3:n.566-16814A>G