Canonical Allele Identifier: CA2410936530
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582570A= , CM000684.2:g.50582570A= GRCh38
NC_000022.10:g.51020999A= , CM000684.1:g.51020999A= GRCh37
NC_000022.9:g.49367865A= NCBI36
NG_012643.1:g.1098T=
NG_029213.1:g.5430T= , LRG_855:g.5430T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.212T= (CHKB) MANE Select ENSP00000384400.3:p.Val71=
ENST00000406938.2:c.212T= (CHKB) ENSP00000384400.2:p.Val71=
ENST00000463053.1:n.307-213T= (CHKB)
ENST00000476289.5:n.285T= (CHKB)
ENST00000479003.5:n.251T= (CHKB)
ENST00000481673.5:n.276T= (CHKB)
ENST00000484266.5:n.255T= (CHKB)
ENST00000492556.5:n.396T= (CHKB-CPT1B)
ENST00000492582.5:n.285T= (CHKB)
NM_005198.4:c.212T= , LRG_855t1:c.212T= (CHKB) NP_005189.2:p.Val71=
NR_027928.2:n.430T= (CHKB-CPT1B)
NM_005198.5:c.212T= (CHKB) MANE Select NP_005189.2:p.Val71=