Canonical Allele Identifier: CA2819320582
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582059T>C , CM000684.2:g.50582059T>C GRCh38
NC_000022.10:g.51020488T>C , CM000684.1:g.51020488T>C GRCh37
NC_000022.9:g.49367354T>C NCBI36
NG_012643.1:g.1609A>G
NG_029213.1:g.5941A>G , LRG_855:g.5941A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.333+190A>G (CHKB) MANE Select ENSP00000384400.3:n.333+190A>G
ENST00000406938.2:c.333+190A>G (CHKB) ENSP00000384400.2:n.333+190A>G
ENST00000463053.1:n.452A>G (CHKB)
ENST00000465842.1:n.172+190A>G (CHKB)
ENST00000468532.5:n.210+190A>G (CHKB)
ENST00000476289.5:n.606+190A>G (CHKB)
ENST00000479003.5:n.762A>G (CHKB)
ENST00000481673.5:n.587A>G (CHKB)
ENST00000484266.5:n.576+190A>G (CHKB)
ENST00000492556.5:n.907A>G (CHKB-CPT1B)
ENST00000492582.5:n.796A>G (CHKB)
NM_005198.4:c.333+190A>G , LRG_855t1:c.333+190A>G (CHKB) NP_005189.2:n.333+190A>G
NR_027928.2:n.551+190A>G (CHKB-CPT1B)
NM_005198.5:c.333+190A>G (CHKB) MANE Select NP_005189.2:n.333+190A>G