Canonical Allele Identifier: CA412198533

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50580272C>G , CM000684.2:g.50580272C>G	GRCh38
NC_000022.10:g.51018701C>G , CM000684.1:g.51018701C>G	GRCh37
NC_000022.9:g.49365567C>G	NCBI36
NG_012643.1:g.3396G>C
NG_029213.1:g.7728G>C , LRG_855:g.7728G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.737-1G>C (CHKB) MANE Select	ENSP00000384400.3:n.737-1G>C
ENST00000406938.2:c.737-1G>C (CHKB)	ENSP00000384400.2:n.737-1G>C
ENST00000468532.5:n.699G>C (CHKB)
ENST00000471515.5:n.99-1G>C (CHKB)
ENST00000479003.5:n.1447G>C (CHKB)
ENST00000481673.5:n.1187-1G>C (CHKB)
ENST00000484266.5:n.732-1G>C (CHKB)
ENST00000489453.1:n.361G>C (CHKB)
ENST00000492556.5:n.1592G>C (CHKB-CPT1B)
ENST00000492582.5:n.1396-1G>C (CHKB)
NM_005198.4:c.737-1G>C , LRG_855t1:c.737-1G>C (CHKB)	NP_005189.2:n.737-1G>C
NR_027928.2:n.955-1G>C (CHKB-CPT1B)
NM_005198.5:c.737-1G>C (CHKB) MANE Select	NP_005189.2:n.737-1G>C