Canonical Allele Identifier: CA2410936463
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582483G= , CM000684.2:g.50582483G= GRCh38
NC_000022.10:g.51020912G= , CM000684.1:g.51020912G= GRCh37
NC_000022.9:g.49367778G= NCBI36
NG_012643.1:g.1185C=
NG_029213.1:g.5517C= , LRG_855:g.5517C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.224+75C= (CHKB) MANE Select ENSP00000384400.3:n.224+75C=
ENST00000406938.2:c.224+75C= (CHKB) ENSP00000384400.2:n.224+75C=
ENST00000463053.1:n.307-126C= (CHKB)
ENST00000476289.5:n.372C= (CHKB)
ENST00000479003.5:n.338C= (CHKB)
ENST00000481673.5:n.288+75C= (CHKB)
ENST00000484266.5:n.342C= (CHKB)
ENST00000492556.5:n.483C= (CHKB-CPT1B)
ENST00000492582.5:n.372C= (CHKB)
NM_005198.4:c.224+75C= , LRG_855t1:c.224+75C= (CHKB) NP_005189.2:n.224+75C=
NR_027928.2:n.442+75C= (CHKB-CPT1B)
NM_005198.5:c.224+75C= (CHKB) MANE Select NP_005189.2:n.224+75C=