Canonical Allele Identifier: CA10323511

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50579511G>C , CM000684.2:g.50579511G>C	GRCh38
NC_000022.10:g.51017940G>C , CM000684.1:g.51017940G>C	GRCh37
NC_000022.9:g.49364806G>C	NCBI36
NG_012643.1:g.4157C>G
NG_029213.1:g.8489C>G , LRG_855:g.8489C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005198.5:c.1032-4C>G (CHKB) MANE Select	NP_005189.2:n.1032-4C>G
ENST00000406938.3:c.1032-4C>G (CHKB) MANE Select	ENSP00000384400.3:n.1032-4C>G
NM_005198.4:c.1032-4C>G , LRG_855t1:c.1032-4C>G (CHKB)	NP_005189.2:n.1032-4C>G
NR_027928.2:n.1250-4C>G (CHKB-CPT1B)
ENST00000406938.2:c.1032-4C>G (CHKB)	ENSP00000384400.2:n.1032-4C>G
ENST00000452668.1:n.67-53C>G (CHKB-CPT1B)
ENST00000453634.5:c.27-4C>G (CHKB-CPT1B)	ENSP00000457031.1:n.27-4C>G
ENST00000464225.5:n.250-4C>G (CHKB)
ENST00000468532.5:n.995-4C>G (CHKB)
ENST00000471515.5:n.283-4C>G (CHKB)
ENST00000479003.5:n.1743-4C>G (CHKB)
ENST00000481673.5:n.1482-4C>G (CHKB)
ENST00000484266.5:n.1027-4C>G (CHKB)
ENST00000492556.5:n.1888-4C>G (CHKB-CPT1B)
ENST00000492582.5:n.1691-4C>G (CHKB)