Canonical Allele Identifier: CA2657584182

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50582139-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582139A>G , CM000684.2:g.50582139A>G	GRCh38
NC_000022.10:g.51020568A>G , CM000684.1:g.51020568A>G	GRCh37
NC_000022.9:g.49367434A>G	NCBI36
NG_012643.1:g.1529T>C
NG_029213.1:g.5861T>C , LRG_855:g.5861T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.333+110T>C (CHKB) MANE Select	ENSP00000384400.3:n.333+110T>C
ENST00000406938.2:c.333+110T>C (CHKB)	ENSP00000384400.2:n.333+110T>C
ENST00000463053.1:n.416-44T>C (CHKB)
ENST00000465842.1:n.172+110T>C (CHKB)
ENST00000468532.5:n.210+110T>C (CHKB)
ENST00000476289.5:n.606+110T>C (CHKB)
ENST00000479003.5:n.682T>C (CHKB)
ENST00000481673.5:n.507T>C (CHKB)
ENST00000484266.5:n.576+110T>C (CHKB)
ENST00000492556.5:n.827T>C (CHKB-CPT1B)
ENST00000492582.5:n.716T>C (CHKB)
NM_005198.4:c.333+110T>C , LRG_855t1:c.333+110T>C (CHKB)	NP_005189.2:n.333+110T>C
NR_027928.2:n.551+110T>C (CHKB-CPT1B)
NM_005198.5:c.333+110T>C (CHKB) MANE Select	NP_005189.2:n.333+110T>C