Canonical Allele Identifier: CA2410936326
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582323G= , CM000684.2:g.50582323G= GRCh38
NC_000022.10:g.51020752G= , CM000684.1:g.51020752G= GRCh37
NC_000022.9:g.49367618G= NCBI36
NG_012643.1:g.1345C=
NG_029213.1:g.5677C= , LRG_855:g.5677C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.259C= (CHKB) MANE Select ENSP00000384400.3:p.Leu87=
ENST00000406938.2:c.259C= (CHKB) ENSP00000384400.2:p.Leu87=
ENST00000463053.1:n.341C= (CHKB)
ENST00000465842.1:n.98C= (CHKB)
ENST00000468532.5:n.136C= (CHKB)
ENST00000476289.5:n.532C= (CHKB)
ENST00000479003.5:n.498C= (CHKB)
ENST00000481673.5:n.323C= (CHKB)
ENST00000484266.5:n.502C= (CHKB)
ENST00000492556.5:n.643C= (CHKB-CPT1B)
ENST00000492582.5:n.532C= (CHKB)
NM_005198.4:c.259C= , LRG_855t1:c.259C= (CHKB) NP_005189.2:p.Leu87=
NR_027928.2:n.477C= (CHKB-CPT1B)
NM_005198.5:c.259C= (CHKB) MANE Select NP_005189.2:p.Leu87=