Canonical Allele Identifier: CA10323881
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

ClinVar Variation Id: 943316
ClinVar RCV Id: RCV001213487
dbSNP Id: rs758217425
COSMIC: COSM390949

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582562C>G , CM000684.2:g.50582562C>G GRCh38
NC_000022.10:g.51020991C>G , CM000684.1:g.51020991C>G GRCh37
NC_000022.9:g.49367857C>G NCBI36
NG_012643.1:g.1106G>C
NG_029213.1:g.5438G>C , LRG_855:g.5438G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.220G>C (CHKB) MANE Select ENSP00000384400.3:p.Val74Leu
ENST00000406938.2:c.220G>C (CHKB) ENSP00000384400.2:p.Val74Leu
ENST00000463053.1:n.307-205G>C (CHKB)
ENST00000476289.5:n.293G>C (CHKB)
ENST00000479003.5:n.259G>C (CHKB)
ENST00000481673.5:n.284G>C (CHKB)
ENST00000484266.5:n.263G>C (CHKB)
ENST00000492556.5:n.404G>C (CHKB-CPT1B)
ENST00000492582.5:n.293G>C (CHKB)
NM_005198.4:c.220G>C , LRG_855t1:c.220G>C (CHKB) NP_005189.2:p.Val74Leu
NR_027928.2:n.438G>C (CHKB-CPT1B)
NM_005198.5:c.220G>C (CHKB) MANE Select NP_005189.2:p.Val74Leu