Canonical Allele Identifier: CA412202630

Gene: CHKB CHKB-CPT1B

Linked Data

• ClinVar Variation Id: 1363762
• ClinVar RCV Id: RCV001937162
• dbSNP Id: rs1329658058
• MyVariant Identifiers: chr22:g.51020767G>C (hg19) ; chr22:g.50582338G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582338G>C , CM000684.2:g.50582338G>C	GRCh38
NC_000022.10:g.51020767G>C , CM000684.1:g.51020767G>C	GRCh37
NC_000022.9:g.49367633G>C	NCBI36
NG_012643.1:g.1330C>G
NG_029213.1:g.5662C>G , LRG_855:g.5662C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.244C>G (CHKB) MANE Select	ENSP00000384400.3:p.Leu82Val
ENST00000406938.2:c.244C>G (CHKB)	ENSP00000384400.2:p.Leu82Val
ENST00000463053.1:n.326C>G (CHKB)
ENST00000465842.1:n.83C>G (CHKB)
ENST00000468532.5:n.121C>G (CHKB)
ENST00000476289.5:n.517C>G (CHKB)
ENST00000479003.5:n.483C>G (CHKB)
ENST00000481673.5:n.308C>G (CHKB)
ENST00000484266.5:n.487C>G (CHKB)
ENST00000492556.5:n.628C>G (CHKB-CPT1B)
ENST00000492582.5:n.517C>G (CHKB)
NM_005198.4:c.244C>G , LRG_855t1:c.244C>G (CHKB)	NP_005189.2:p.Leu82Val
NR_027928.2:n.462C>G (CHKB-CPT1B)
NM_005198.5:c.244C>G (CHKB) MANE Select	NP_005189.2:p.Leu82Val