Canonical Allele Identifier: CA220643996

Gene:

Linked Data

• dbSNP Id: rs1052518541
• gnomAD v3: 11-34812607-C-T
• gnomAD v4: 11-34812607-C-T
• MyVariant Identifiers: chr11:g.34834154C>T (hg19) ; chr11:g.34812607C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34812607C>T , CM000673.2:g.34812607C>T	GRCh38
NC_000011.9:g.34834154C>T , CM000673.1:g.34834154C>T	GRCh37
NC_000011.8:g.34790730C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_428897.2:n.579+58000C>T
XR_931188.1:n.693+58000C>T
XR_931189.1:n.854+58000C>T
XR_931190.1:n.639+58000C>T
XR_931191.1:n.689+58000C>T
XR_001748174.1:n.855+58000C>T
XR_001748176.1:n.1016+58000C>T
XR_002957246.1:n.639+58000C>T