Canonical Allele Identifier: CA2410935847
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50581426A= , CM000684.2:g.50581426A= GRCh38
NC_000022.10:g.51019855A= , CM000684.1:g.51019855A= GRCh37
NC_000022.9:g.49366721A= NCBI36
NG_012643.1:g.2242T=
NG_029213.1:g.6574T= , LRG_855:g.6574T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.575T= (CHKB) MANE Select ENSP00000384400.3:p.Met192=
ENST00000406938.2:c.575T= (CHKB) ENSP00000384400.2:p.Met192=
ENST00000463053.1:n.724T= (CHKB)
ENST00000468532.5:n.452T= (CHKB)
ENST00000476289.5:n.848T= (CHKB)
ENST00000479003.5:n.1200T= (CHKB)
ENST00000481673.5:n.1025T= (CHKB)
ENST00000484266.5:n.577-766T= (CHKB)
ENST00000492556.5:n.1345T= (CHKB-CPT1B)
ENST00000492582.5:n.1234T= (CHKB)
NM_005198.4:c.575T= , LRG_855t1:c.575T= (CHKB) NP_005189.2:p.Met192=
NR_027928.2:n.793T= (CHKB-CPT1B)
NM_005198.5:c.575T= (CHKB) MANE Select NP_005189.2:p.Met192=