Canonical Allele Identifier: CA2577767357

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581564G>C , CM000684.2:g.50581564G>C	GRCh38
NC_000022.10:g.51019993G>C , CM000684.1:g.51019993G>C	GRCh37
NC_000022.9:g.49366859G>C	NCBI36
NG_012643.1:g.2104C>G
NG_029213.1:g.6436C>G , LRG_855:g.6436C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000406938.3:c.448-11C>G (CHKB) MANE Select	ENSP00000384400.3:n.448-11C>G
ENST00000406938.2:c.448-11C>G (CHKB)	ENSP00000384400.2:n.448-11C>G
ENST00000463053.1:n.597-11C>G (CHKB)
ENST00000468532.5:n.325-11C>G (CHKB)
ENST00000476289.5:n.721-11C>G (CHKB)
ENST00000479003.5:n.1073-11C>G (CHKB)
ENST00000481673.5:n.898-11C>G (CHKB)
ENST00000484266.5:n.576+685C>G (CHKB)
ENST00000492556.5:n.1218-11C>G (CHKB-CPT1B)
ENST00000492582.5:n.1107-11C>G (CHKB)
NM_005198.4:c.448-11C>G , LRG_855t1:c.448-11C>G (CHKB)	NP_005189.2:n.448-11C>G
NR_027928.2:n.666-11C>G (CHKB-CPT1B)
NM_005198.5:c.448-11C>G (CHKB) MANE Select	NP_005189.2:n.448-11C>G