Canonical Allele Identifier: CA598511774

Gene:

Linked Data

• dbSNP Id: rs1273481128
• gnomAD v2: 11-34834161-C-T
• gnomAD v3: 11-34812614-C-T
• gnomAD v4: 11-34812614-C-T
• MyVariant Identifiers: chr11:g.34834161C>T (hg19) ; chr11:g.34812614C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34812614C>T , CM000673.2:g.34812614C>T	GRCh38
NC_000011.9:g.34834161C>T , CM000673.1:g.34834161C>T	GRCh37
NC_000011.8:g.34790737C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_428897.2:n.579+58007C>T
XR_931188.1:n.693+58007C>T
XR_931189.1:n.854+58007C>T
XR_931190.1:n.639+58007C>T
XR_931191.1:n.689+58007C>T
XR_001748174.1:n.855+58007C>T
XR_001748176.1:n.1016+58007C>T
XR_002957246.1:n.639+58007C>T