Canonical Allele Identifier: CA412202785

Gene: CHKB CHKB-CPT1B

Linked Data

• MyVariant Identifiers: chr22:g.51020788T>G (hg19) ; chr22:g.50582359T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582359T>G , CM000684.2:g.50582359T>G	GRCh38
NC_000022.10:g.51020788T>G , CM000684.1:g.51020788T>G	GRCh37
NC_000022.9:g.49367654T>G	NCBI36
NG_012643.1:g.1309A>C
NG_029213.1:g.5641A>C , LRG_855:g.5641A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-2A>C (CHKB) MANE Select	ENSP00000384400.3:n.225-2A>C
ENST00000406938.2:c.225-2A>C (CHKB)	ENSP00000384400.2:n.225-2A>C
ENST00000463053.1:n.307-2A>C (CHKB)
ENST00000465842.1:n.62A>C (CHKB)
ENST00000468532.5:n.100A>C (CHKB)
ENST00000476289.5:n.496A>C (CHKB)
ENST00000479003.5:n.462A>C (CHKB)
ENST00000481673.5:n.289-2A>C (CHKB)
ENST00000484266.5:n.466A>C (CHKB)
ENST00000492556.5:n.607A>C (CHKB-CPT1B)
ENST00000492582.5:n.496A>C (CHKB)
NM_005198.4:c.225-2A>C , LRG_855t1:c.225-2A>C (CHKB)	NP_005189.2:n.225-2A>C
NR_027928.2:n.443-2A>C (CHKB-CPT1B)
NM_005198.5:c.225-2A>C (CHKB) MANE Select	NP_005189.2:n.225-2A>C