Canonical Allele Identifier: CA598511772

Gene:

Linked Data

• dbSNP Id: rs1349347103
• gnomAD v2: 11-34834066-T-C
• MyVariant Identifiers: chr11:g.34834066T>C (hg19) ; chr11:g.34812519T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34812519T>C , CM000673.2:g.34812519T>C	GRCh38
NC_000011.9:g.34834066T>C , CM000673.1:g.34834066T>C	GRCh37
NC_000011.8:g.34790642T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_428897.2:n.579+57912T>C
XR_931188.1:n.693+57912T>C
XR_931189.1:n.854+57912T>C
XR_931190.1:n.639+57912T>C
XR_931191.1:n.689+57912T>C
XR_001748174.1:n.855+57912T>C
XR_001748176.1:n.1016+57912T>C
XR_002957246.1:n.639+57912T>C