Canonical Allele Identifier: CA1026671812

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs2070713101
• gnomAD v3: 22-50582383-A-G
• gnomAD v4: 22-50582383-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582383A>G , CM000684.2:g.50582383A>G	GRCh38
NC_000022.10:g.51020812A>G , CM000684.1:g.51020812A>G	GRCh37
NC_000022.9:g.49367678A>G	NCBI36
NG_012643.1:g.1285T>C
NG_029213.1:g.5617T>C , LRG_855:g.5617T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-26T>C (CHKB) MANE Select	ENSP00000384400.3:n.225-26T>C
ENST00000406938.2:c.225-26T>C (CHKB)	ENSP00000384400.2:n.225-26T>C
ENST00000463053.1:n.307-26T>C (CHKB)
ENST00000465842.1:n.38T>C (CHKB)
ENST00000468532.5:n.76T>C (CHKB)
ENST00000476289.5:n.472T>C (CHKB)
ENST00000479003.5:n.438T>C (CHKB)
ENST00000481673.5:n.289-26T>C (CHKB)
ENST00000484266.5:n.442T>C (CHKB)
ENST00000492556.5:n.583T>C (CHKB-CPT1B)
ENST00000492582.5:n.472T>C (CHKB)
NM_005198.4:c.225-26T>C , LRG_855t1:c.225-26T>C (CHKB)	NP_005189.2:n.225-26T>C
NR_027928.2:n.443-26T>C (CHKB-CPT1B)
NM_005198.5:c.225-26T>C (CHKB) MANE Select	NP_005189.2:n.225-26T>C