Canonical Allele Identifier: CA2410936534
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582575C= , CM000684.2:g.50582575C= GRCh38
NC_000022.10:g.51021004C= , CM000684.1:g.51021004C= GRCh37
NC_000022.9:g.49367870C= NCBI36
NG_012643.1:g.1093G=
NG_029213.1:g.5425G= , LRG_855:g.5425G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.207G= (CHKB) MANE Select ENSP00000384400.3:p.Leu69=
ENST00000406938.2:c.207G= (CHKB) ENSP00000384400.2:p.Leu69=
ENST00000463053.1:n.307-218G= (CHKB)
ENST00000476289.5:n.280G= (CHKB)
ENST00000479003.5:n.246G= (CHKB)
ENST00000481673.5:n.271G= (CHKB)
ENST00000484266.5:n.250G= (CHKB)
ENST00000492556.5:n.391G= (CHKB-CPT1B)
ENST00000492582.5:n.280G= (CHKB)
NM_005198.4:c.207G= , LRG_855t1:c.207G= (CHKB) NP_005189.2:p.Leu69=
NR_027928.2:n.425G= (CHKB-CPT1B)
NM_005198.5:c.207G= (CHKB) MANE Select NP_005189.2:p.Leu69=