Canonical Allele Identifier: CA598511863

Gene:

Linked Data

• dbSNP Id: rs1005563147
• gnomAD v2: 11-34834203-G-C
• gnomAD v3: 11-34812656-G-C
• gnomAD v4: 11-34812656-G-C
• MyVariant Identifiers: chr11:g.34834203G>C (hg19) ; chr11:g.34812656G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34812656G>C , CM000673.2:g.34812656G>C	GRCh38
NC_000011.9:g.34834203G>C , CM000673.1:g.34834203G>C	GRCh37
NC_000011.8:g.34790779G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_428897.2:n.579+58049G>C
XR_931188.1:n.693+58049G>C
XR_931189.1:n.854+58049G>C
XR_931190.1:n.639+58049G>C
XR_931191.1:n.689+58049G>C
XR_001748174.1:n.855+58049G>C
XR_001748176.1:n.1016+58049G>C
XR_002957246.1:n.639+58049G>C