Canonical Allele Identifier: CA2410936523
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582557C= , CM000684.2:g.50582557C= GRCh38
NC_000022.10:g.51020986C= , CM000684.1:g.51020986C= GRCh37
NC_000022.9:g.49367852C= NCBI36
NG_012643.1:g.1111G=
NG_029213.1:g.5443G= , LRG_855:g.5443G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.224+1G= (CHKB) MANE Select ENSP00000384400.3:n.224+1G=
ENST00000406938.2:c.224+1G= (CHKB) ENSP00000384400.2:n.224+1G=
ENST00000463053.1:n.307-200G= (CHKB)
ENST00000476289.5:n.298G= (CHKB)
ENST00000479003.5:n.264G= (CHKB)
ENST00000481673.5:n.288+1G= (CHKB)
ENST00000484266.5:n.268G= (CHKB)
ENST00000492556.5:n.409G= (CHKB-CPT1B)
ENST00000492582.5:n.298G= (CHKB)
NM_005198.4:c.224+1G= , LRG_855t1:c.224+1G= (CHKB) NP_005189.2:n.224+1G=
NR_027928.2:n.442+1G= (CHKB-CPT1B)
NM_005198.5:c.224+1G= (CHKB) MANE Select NP_005189.2:n.224+1G=