Canonical Allele Identifier: CA412202963

Gene: CHKB CHKB-CPT1B

Linked Data

• ClinVar Variation Id: 1072448
• ClinVar RCV Id: RCV001385174
• dbSNP Id: rs80067609
• gnomAD v4: 22-50582566-G-C
• MyVariant Identifiers: chr22:g.51020995G>C (hg19) ; chr22:g.50582566G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582566G>C , CM000684.2:g.50582566G>C	GRCh38
NC_000022.10:g.51020995G>C , CM000684.1:g.51020995G>C	GRCh37
NC_000022.9:g.49367861G>C	NCBI36
NG_012643.1:g.1102C>G
NG_029213.1:g.5434C>G , LRG_855:g.5434C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.216C>G (CHKB) MANE Select	ENSP00000384400.3:p.Tyr72Ter
ENST00000406938.2:c.216C>G (CHKB)	ENSP00000384400.2:p.Tyr72Ter
ENST00000463053.1:n.307-209C>G (CHKB)
ENST00000476289.5:n.289C>G (CHKB)
ENST00000479003.5:n.255C>G (CHKB)
ENST00000481673.5:n.280C>G (CHKB)
ENST00000484266.5:n.259C>G (CHKB)
ENST00000492556.5:n.400C>G (CHKB-CPT1B)
ENST00000492582.5:n.289C>G (CHKB)
NM_005198.4:c.216C>G , LRG_855t1:c.216C>G (CHKB)	NP_005189.2:p.Tyr72Ter
NR_027928.2:n.434C>G (CHKB-CPT1B)
NM_005198.5:c.216C>G (CHKB) MANE Select	NP_005189.2:p.Tyr72Ter