Canonical Allele Identifier: CA2410936335
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582334A= , CM000684.2:g.50582334A= GRCh38
NC_000022.10:g.51020763A= , CM000684.1:g.51020763A= GRCh37
NC_000022.9:g.49367629A= NCBI36
NG_012643.1:g.1334T=
NG_029213.1:g.5666T= , LRG_855:g.5666T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.248T= (CHKB) MANE Select ENSP00000384400.3:p.Phe83=
ENST00000406938.2:c.248T= (CHKB) ENSP00000384400.2:p.Phe83=
ENST00000463053.1:n.330T= (CHKB)
ENST00000465842.1:n.87T= (CHKB)
ENST00000468532.5:n.125T= (CHKB)
ENST00000476289.5:n.521T= (CHKB)
ENST00000479003.5:n.487T= (CHKB)
ENST00000481673.5:n.312T= (CHKB)
ENST00000484266.5:n.491T= (CHKB)
ENST00000492556.5:n.632T= (CHKB-CPT1B)
ENST00000492582.5:n.521T= (CHKB)
NM_005198.4:c.248T= , LRG_855t1:c.248T= (CHKB) NP_005189.2:p.Phe83=
NR_027928.2:n.466T= (CHKB-CPT1B)
NM_005198.5:c.248T= (CHKB) MANE Select NP_005189.2:p.Phe83=