Canonical Allele Identifier: CA2410935905
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50581550G= , CM000684.2:g.50581550G= GRCh38
NC_000022.10:g.51019979G= , CM000684.1:g.51019979G= GRCh37
NC_000022.9:g.49366845G= NCBI36
NG_012643.1:g.2118C=
NG_029213.1:g.6450C= , LRG_855:g.6450C=

Transcript Alleles

HGVS Amino-acid change
ENST00000406938.3:c.451C= (CHKB) MANE Select ENSP00000384400.3:p.Arg151=
ENST00000406938.2:c.451C= (CHKB) ENSP00000384400.2:p.Arg151=
ENST00000463053.1:n.600C= (CHKB)
ENST00000468532.5:n.328C= (CHKB)
ENST00000476289.5:n.724C= (CHKB)
ENST00000479003.5:n.1076C= (CHKB)
ENST00000481673.5:n.901C= (CHKB)
ENST00000484266.5:n.576+699C= (CHKB)
ENST00000492556.5:n.1221C= (CHKB-CPT1B)
ENST00000492582.5:n.1110C= (CHKB)
NM_005198.4:c.451C= , LRG_855t1:c.451C= (CHKB) NP_005189.2:p.Arg151=
NR_027928.2:n.669C= (CHKB-CPT1B)
NM_005198.5:c.451C= (CHKB) MANE Select NP_005189.2:p.Arg151=