Canonical Allele Identifier: CA680793838

Gene:

Linked Data

• dbSNP Id: rs1438307189
• gnomAD v3: 11-81143407-C-A
• gnomAD v4: 11-81143407-C-A
• MyVariant Identifiers: chr11:g.80854450C>A (hg19) ; chr11:g.81143407C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.81143407C>A , CM000673.2:g.81143407C>A	GRCh38
NC_000011.9:g.80854450C>A , CM000673.1:g.80854450C>A	GRCh37
NC_000011.8:g.80532098C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_247272.2:n.46+109519G>T