Canonical Allele Identifier: CA10323778

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581737C>G , CM000684.2:g.50581737C>G	GRCh38
NC_000022.10:g.51020166C>G , CM000684.1:g.51020166C>G	GRCh37
NC_000022.9:g.49367032C>G	NCBI36
NG_012643.1:g.1931G>C
NG_029213.1:g.6263G>C , LRG_855:g.6263G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005198.5:c.447+12G>C (CHKB) MANE Select	NP_005189.2:n.447+12G>C
ENST00000406938.3:c.447+12G>C (CHKB) MANE Select	ENSP00000384400.3:n.447+12G>C
NM_005198.4:c.447+12G>C , LRG_855t1:c.447+12G>C (CHKB)	NP_005189.2:n.447+12G>C
NR_027928.2:n.665+12G>C (CHKB-CPT1B)
ENST00000406938.2:c.447+12G>C (CHKB)	ENSP00000384400.2:n.447+12G>C
ENST00000463053.1:n.596+12G>C (CHKB)
ENST00000465842.1:n.298G>C (CHKB)
ENST00000468532.5:n.324+12G>C (CHKB)
ENST00000476289.5:n.720+12G>C (CHKB)
ENST00000479003.5:n.1072+12G>C (CHKB)
ENST00000481673.5:n.897+12G>C (CHKB)
ENST00000484266.5:n.576+512G>C (CHKB)
ENST00000492556.5:n.1217+12G>C (CHKB-CPT1B)
ENST00000492582.5:n.1106+12G>C (CHKB)