Canonical Allele Identifier: CA230077631

Gene:

Linked Data

• dbSNP Id: rs190518543
• gnomAD v3: 11-116442682-T-C
• gnomAD v4: 11-116442682-T-C
• MyVariant Identifiers: chr11:g.116313399T>C (hg19) ; chr11:g.116442682T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116442682T>C , CM000673.2:g.116442682T>C	GRCh38
NC_000011.9:g.116313399T>C , CM000673.1:g.116313399T>C	GRCh37
NC_000011.8:g.115818609T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001748403.1:n.349+31195A>G