Canonical Allele Identifier: CA2410936460
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582481T= , CM000684.2:g.50582481T= GRCh38
NC_000022.10:g.51020910T= , CM000684.1:g.51020910T= GRCh37
NC_000022.9:g.49367776T= NCBI36
NG_012643.1:g.1187A=
NG_029213.1:g.5519A= , LRG_855:g.5519A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.224+77A= (CHKB) MANE Select ENSP00000384400.3:n.224+77A=
ENST00000406938.2:c.224+77A= (CHKB) ENSP00000384400.2:n.224+77A=
ENST00000463053.1:n.307-124A= (CHKB)
ENST00000476289.5:n.374A= (CHKB)
ENST00000479003.5:n.340A= (CHKB)
ENST00000481673.5:n.288+77A= (CHKB)
ENST00000484266.5:n.344A= (CHKB)
ENST00000492556.5:n.485A= (CHKB-CPT1B)
ENST00000492582.5:n.374A= (CHKB)
NM_005198.4:c.224+77A= , LRG_855t1:c.224+77A= (CHKB) NP_005189.2:n.224+77A=
NR_027928.2:n.442+77A= (CHKB-CPT1B)
NM_005198.5:c.224+77A= (CHKB) MANE Select NP_005189.2:n.224+77A=