Canonical Allele Identifier: CA2410935815
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50581373A= , CM000684.2:g.50581373A= GRCh38
NC_000022.10:g.51019802A= , CM000684.1:g.51019802A= GRCh37
NC_000022.9:g.49366668A= NCBI36
NG_012643.1:g.2295T=
NG_029213.1:g.6627T= , LRG_855:g.6627T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.581+47T= (CHKB) MANE Select ENSP00000384400.3:n.581+47T=
ENST00000406938.2:c.581+47T= (CHKB) ENSP00000384400.2:n.581+47T=
ENST00000463053.1:n.730+47T= (CHKB)
ENST00000468532.5:n.458+47T= (CHKB)
ENST00000476289.5:n.854+47T= (CHKB)
ENST00000479003.5:n.1206+47T= (CHKB)
ENST00000481673.5:n.1031+47T= (CHKB)
ENST00000484266.5:n.577-713T= (CHKB)
ENST00000492556.5:n.1351+47T= (CHKB-CPT1B)
ENST00000492582.5:n.1240+47T= (CHKB)
NM_005198.4:c.581+47T= , LRG_855t1:c.581+47T= (CHKB) NP_005189.2:n.581+47T=
NR_027928.2:n.799+47T= (CHKB-CPT1B)
NM_005198.5:c.581+47T= (CHKB) MANE Select NP_005189.2:n.581+47T=