Canonical Allele Identifier: CA2410936535
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582576A= , CM000684.2:g.50582576A= GRCh38
NC_000022.10:g.51021005A= , CM000684.1:g.51021005A= GRCh37
NC_000022.9:g.49367871A= NCBI36
NG_012643.1:g.1092T=
NG_029213.1:g.5424T= , LRG_855:g.5424T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.206T= (CHKB) MANE Select ENSP00000384400.3:p.Leu69=
ENST00000406938.2:c.206T= (CHKB) ENSP00000384400.2:p.Leu69=
ENST00000463053.1:n.307-219T= (CHKB)
ENST00000476289.5:n.279T= (CHKB)
ENST00000479003.5:n.245T= (CHKB)
ENST00000481673.5:n.270T= (CHKB)
ENST00000484266.5:n.249T= (CHKB)
ENST00000492556.5:n.390T= (CHKB-CPT1B)
ENST00000492582.5:n.279T= (CHKB)
NM_005198.4:c.206T= , LRG_855t1:c.206T= (CHKB) NP_005189.2:p.Leu69=
NR_027928.2:n.424T= (CHKB-CPT1B)
NM_005198.5:c.206T= (CHKB) MANE Select NP_005189.2:p.Leu69=