Canonical Allele Identifier: CA2410935863
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50581455G= , CM000684.2:g.50581455G= GRCh38
NC_000022.10:g.51019884G= , CM000684.1:g.51019884G= GRCh37
NC_000022.9:g.49366750G= NCBI36
NG_012643.1:g.2213C=
NG_029213.1:g.6545C= , LRG_855:g.6545C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.546C= (CHKB) MANE Select ENSP00000384400.3:p.Thr182=
ENST00000406938.2:c.546C= (CHKB) ENSP00000384400.2:p.Thr182=
ENST00000463053.1:n.695C= (CHKB)
ENST00000468532.5:n.423C= (CHKB)
ENST00000476289.5:n.819C= (CHKB)
ENST00000479003.5:n.1171C= (CHKB)
ENST00000481673.5:n.996C= (CHKB)
ENST00000484266.5:n.577-795C= (CHKB)
ENST00000492556.5:n.1316C= (CHKB-CPT1B)
ENST00000492582.5:n.1205C= (CHKB)
NM_005198.4:c.546C= , LRG_855t1:c.546C= (CHKB) NP_005189.2:p.Thr182=
NR_027928.2:n.764C= (CHKB-CPT1B)
NM_005198.5:c.546C= (CHKB) MANE Select NP_005189.2:p.Thr182=