Canonical Allele Identifier: CA2410936343
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582350G= , CM000684.2:g.50582350G= GRCh38
NC_000022.10:g.51020779G= , CM000684.1:g.51020779G= GRCh37
NC_000022.9:g.49367645G= NCBI36
NG_012643.1:g.1318C=
NG_029213.1:g.5650C= , LRG_855:g.5650C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.232C= (CHKB) MANE Select ENSP00000384400.3:p.Leu78=
ENST00000406938.2:c.232C= (CHKB) ENSP00000384400.2:p.Leu78=
ENST00000463053.1:n.314C= (CHKB)
ENST00000465842.1:n.71C= (CHKB)
ENST00000468532.5:n.109C= (CHKB)
ENST00000476289.5:n.505C= (CHKB)
ENST00000479003.5:n.471C= (CHKB)
ENST00000481673.5:n.296C= (CHKB)
ENST00000484266.5:n.475C= (CHKB)
ENST00000492556.5:n.616C= (CHKB-CPT1B)
ENST00000492582.5:n.505C= (CHKB)
NM_005198.4:c.232C= , LRG_855t1:c.232C= (CHKB) NP_005189.2:p.Leu78=
NR_027928.2:n.450C= (CHKB-CPT1B)
NM_005198.5:c.232C= (CHKB) MANE Select NP_005189.2:p.Leu78=