Canonical Allele Identifier: CA2410936338
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582338G= , CM000684.2:g.50582338G= GRCh38
NC_000022.10:g.51020767G= , CM000684.1:g.51020767G= GRCh37
NC_000022.9:g.49367633G= NCBI36
NG_012643.1:g.1330C=
NG_029213.1:g.5662C= , LRG_855:g.5662C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.244C= (CHKB) MANE Select ENSP00000384400.3:p.Leu82=
ENST00000406938.2:c.244C= (CHKB) ENSP00000384400.2:p.Leu82=
ENST00000463053.1:n.326C= (CHKB)
ENST00000465842.1:n.83C= (CHKB)
ENST00000468532.5:n.121C= (CHKB)
ENST00000476289.5:n.517C= (CHKB)
ENST00000479003.5:n.483C= (CHKB)
ENST00000481673.5:n.308C= (CHKB)
ENST00000484266.5:n.487C= (CHKB)
ENST00000492556.5:n.628C= (CHKB-CPT1B)
ENST00000492582.5:n.517C= (CHKB)
NM_005198.4:c.244C= , LRG_855t1:c.244C= (CHKB) NP_005189.2:p.Leu82=
NR_027928.2:n.462C= (CHKB-CPT1B)
NM_005198.5:c.244C= (CHKB) MANE Select NP_005189.2:p.Leu82=