Canonical Allele Identifier: CA2577767422

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50582362-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582362A>G , CM000684.2:g.50582362A>G	GRCh38
NC_000022.10:g.51020791A>G , CM000684.1:g.51020791A>G	GRCh37
NC_000022.9:g.49367657A>G	NCBI36
NG_012643.1:g.1306T>C
NG_029213.1:g.5638T>C , LRG_855:g.5638T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-5T>C (CHKB) MANE Select	ENSP00000384400.3:n.225-5T>C
ENST00000406938.2:c.225-5T>C (CHKB)	ENSP00000384400.2:n.225-5T>C
ENST00000463053.1:n.307-5T>C (CHKB)
ENST00000465842.1:n.59T>C (CHKB)
ENST00000468532.5:n.97T>C (CHKB)
ENST00000476289.5:n.493T>C (CHKB)
ENST00000479003.5:n.459T>C (CHKB)
ENST00000481673.5:n.289-5T>C (CHKB)
ENST00000484266.5:n.463T>C (CHKB)
ENST00000492556.5:n.604T>C (CHKB-CPT1B)
ENST00000492582.5:n.493T>C (CHKB)
NM_005198.4:c.225-5T>C , LRG_855t1:c.225-5T>C (CHKB)	NP_005189.2:n.225-5T>C
NR_027928.2:n.443-5T>C (CHKB-CPT1B)
NM_005198.5:c.225-5T>C (CHKB) MANE Select	NP_005189.2:n.225-5T>C