Canonical Allele Identifier: CA675841051

Gene:

Linked Data

• dbSNP Id: rs1246983992
• gnomAD v3: 11-34812502-G-A
• gnomAD v4: 11-34812502-G-A
• MyVariant Identifiers: chr11:g.34834049G>A (hg19) ; chr11:g.34812502G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34812502G>A , CM000673.2:g.34812502G>A	GRCh38
NC_000011.9:g.34834049G>A , CM000673.1:g.34834049G>A	GRCh37
NC_000011.8:g.34790625G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_428897.2:n.579+57895G>A
XR_931188.1:n.693+57895G>A
XR_931189.1:n.854+57895G>A
XR_931190.1:n.639+57895G>A
XR_931191.1:n.689+57895G>A
XR_001748174.1:n.855+57895G>A
XR_001748176.1:n.1016+57895G>A
XR_002957246.1:n.639+57895G>A