Canonical Allele Identifier: CA10323664
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

ClinVar Variation Id: 430310
ClinVar RCV Id: RCV000494588
dbSNP Id: rs776158594

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50580356A>G , CM000684.2:g.50580356A>G GRCh38
NC_000022.10:g.51018785A>G , CM000684.1:g.51018785A>G GRCh37
NC_000022.9:g.49365651A>G NCBI36
NG_012643.1:g.3312T>C
NG_029213.1:g.7644T>C , LRG_855:g.7644T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000406938.3:c.736+2T>C (CHKB) MANE Select ENSP00000384400.3:n.736+2T>C
ENST00000406938.2:c.736+2T>C (CHKB) ENSP00000384400.2:n.736+2T>C
ENST00000468532.5:n.615T>C (CHKB)
ENST00000471515.5:n.98+2T>C (CHKB)
ENST00000479003.5:n.1363T>C (CHKB)
ENST00000481673.5:n.1186+2T>C (CHKB)
ENST00000484266.5:n.731+2T>C (CHKB)
ENST00000489453.1:n.277T>C (CHKB)
ENST00000492556.5:n.1508T>C (CHKB-CPT1B)
ENST00000492582.5:n.1395+2T>C (CHKB)
NM_005198.4:c.736+2T>C , LRG_855t1:c.736+2T>C (CHKB) NP_005189.2:n.736+2T>C
NR_027928.2:n.954+2T>C (CHKB-CPT1B)
NM_005198.5:c.736+2T>C (CHKB) MANE Select NP_005189.2:n.736+2T>C