Canonical Allele Identifier: CA10323477

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50579284G>A , CM000684.2:g.50579284G>A	GRCh38
NC_000022.10:g.51017713G>A , CM000684.1:g.51017713G>A	GRCh37
NC_000022.9:g.49364579G>A	NCBI36
NG_012643.1:g.4384C>T
NG_029213.1:g.8716C>T , LRG_855:g.8716C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.1114-29C>T (CHKB) MANE Select	ENSP00000384400.3:n.1114-29C>T
ENST00000406938.2:c.1114-29C>T (CHKB)	ENSP00000384400.2:n.1114-29C>T
ENST00000452668.1:n.100-29C>T (CHKB-CPT1B)
ENST00000453634.5:c.109-29C>T (CHKB-CPT1B)	ENSP00000457031.1:n.109-29C>T
ENST00000464225.5:n.332-29C>T (CHKB)
ENST00000471515.5:n.365-29C>T (CHKB)
ENST00000479003.5:n.1825-29C>T (CHKB)
ENST00000481673.5:n.1564-29C>T (CHKB)
ENST00000484266.5:n.1109-29C>T (CHKB)
ENST00000492556.5:n.1970-29C>T (CHKB-CPT1B)
ENST00000492582.5:n.1773-29C>T (CHKB)
NM_005198.4:c.1114-29C>T , LRG_855t1:c.1114-29C>T (CHKB)	NP_005189.2:n.1114-29C>T
NR_027928.2:n.1332-29C>T (CHKB-CPT1B)
NM_005198.5:c.1114-29C>T (CHKB) MANE Select	NP_005189.2:n.1114-29C>T