Canonical Allele Identifier: CA2410936524
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582562C= , CM000684.2:g.50582562C= GRCh38
NC_000022.10:g.51020991C= , CM000684.1:g.51020991C= GRCh37
NC_000022.9:g.49367857C= NCBI36
NG_012643.1:g.1106G=
NG_029213.1:g.5438G= , LRG_855:g.5438G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.220G= (CHKB) MANE Select ENSP00000384400.3:p.Val74=
ENST00000406938.2:c.220G= (CHKB) ENSP00000384400.2:p.Val74=
ENST00000463053.1:n.307-205G= (CHKB)
ENST00000476289.5:n.293G= (CHKB)
ENST00000479003.5:n.259G= (CHKB)
ENST00000481673.5:n.284G= (CHKB)
ENST00000484266.5:n.263G= (CHKB)
ENST00000492556.5:n.404G= (CHKB-CPT1B)
ENST00000492582.5:n.293G= (CHKB)
NM_005198.4:c.220G= , LRG_855t1:c.220G= (CHKB) NP_005189.2:p.Val74=
NR_027928.2:n.438G= (CHKB-CPT1B)
NM_005198.5:c.220G= (CHKB) MANE Select NP_005189.2:p.Val74=