Canonical Allele Identifier: CA225746499

Gene:

Linked Data

• dbSNP Id: rs978683340
• gnomAD v2: 11-80854449-C-A
• gnomAD v3: 11-81143406-C-A
• gnomAD v4: 11-81143406-C-A
• MyVariant Identifiers: chr11:g.80854449C>A (hg19) ; chr11:g.81143406C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.81143406C>A , CM000673.2:g.81143406C>A	GRCh38
NC_000011.9:g.80854449C>A , CM000673.1:g.80854449C>A	GRCh37
NC_000011.8:g.80532097C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_247272.2:n.46+109520G>T