Canonical Allele Identifier: CA2410936376
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

dbSNP Id: rs1371311827

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582390G>A , CM000684.2:g.50582390G>A GRCh38
NC_000022.10:g.51020819G>A , CM000684.1:g.51020819G>A GRCh37
NC_000022.9:g.49367685G>A NCBI36
NG_012643.1:g.1278C>T
NG_029213.1:g.5610C>T , LRG_855:g.5610C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.225-33C>T (CHKB) MANE Select ENSP00000384400.3:n.225-33C>T
ENST00000406938.2:c.225-33C>T (CHKB) ENSP00000384400.2:n.225-33C>T
ENST00000463053.1:n.307-33C>T (CHKB)
ENST00000465842.1:n.31C>T (CHKB)
ENST00000468532.5:n.69C>T (CHKB)
ENST00000476289.5:n.465C>T (CHKB)
ENST00000479003.5:n.431C>T (CHKB)
ENST00000481673.5:n.289-33C>T (CHKB)
ENST00000484266.5:n.435C>T (CHKB)
ENST00000492556.5:n.576C>T (CHKB-CPT1B)
ENST00000492582.5:n.465C>T (CHKB)
NM_005198.4:c.225-33C>T , LRG_855t1:c.225-33C>T (CHKB) NP_005189.2:n.225-33C>T
NR_027928.2:n.443-33C>T (CHKB-CPT1B)
NM_005198.5:c.225-33C>T (CHKB) MANE Select NP_005189.2:n.225-33C>T