Canonical Allele Identifier: CA2410935873
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50581482T= , CM000684.2:g.50581482T= GRCh38
NC_000022.10:g.51019911T= , CM000684.1:g.51019911T= GRCh37
NC_000022.9:g.49366777T= NCBI36
NG_012643.1:g.2186A=
NG_029213.1:g.6518A= , LRG_855:g.6518A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.519A= (CHKB) MANE Select ENSP00000384400.3:p.Gln173=
ENST00000406938.2:c.519A= (CHKB) ENSP00000384400.2:p.Gln173=
ENST00000463053.1:n.668A= (CHKB)
ENST00000468532.5:n.396A= (CHKB)
ENST00000476289.5:n.792A= (CHKB)
ENST00000479003.5:n.1144A= (CHKB)
ENST00000481673.5:n.969A= (CHKB)
ENST00000484266.5:n.576+767A= (CHKB)
ENST00000492556.5:n.1289A= (CHKB-CPT1B)
ENST00000492582.5:n.1178A= (CHKB)
NM_005198.4:c.519A= , LRG_855t1:c.519A= (CHKB) NP_005189.2:p.Gln173=
NR_027928.2:n.737A= (CHKB-CPT1B)
NM_005198.5:c.519A= (CHKB) MANE Select NP_005189.2:p.Gln173=