Canonical Allele Identifier: CA325540610

Gene: CHKB CHKB-CPT1B

Linked Data

• ClinVar Variation Id: 2047247
• ClinVar RCV Id: RCV002904160
• dbSNP Id: rs907355659
• gnomAD v3: 22-50582374-G-C
• gnomAD v4: 22-50582374-G-C
• MyVariant Identifiers: chr22:g.51020803G>C (hg19) ; chr22:g.50582374G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582374G>C , CM000684.2:g.50582374G>C	GRCh38
NC_000022.10:g.51020803G>C , CM000684.1:g.51020803G>C	GRCh37
NC_000022.9:g.49367669G>C	NCBI36
NG_012643.1:g.1294C>G
NG_029213.1:g.5626C>G , LRG_855:g.5626C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-17C>G (CHKB) MANE Select	ENSP00000384400.3:n.225-17C>G
ENST00000406938.2:c.225-17C>G (CHKB)	ENSP00000384400.2:n.225-17C>G
ENST00000463053.1:n.307-17C>G (CHKB)
ENST00000465842.1:n.47C>G (CHKB)
ENST00000468532.5:n.85C>G (CHKB)
ENST00000476289.5:n.481C>G (CHKB)
ENST00000479003.5:n.447C>G (CHKB)
ENST00000481673.5:n.289-17C>G (CHKB)
ENST00000484266.5:n.451C>G (CHKB)
ENST00000492556.5:n.592C>G (CHKB-CPT1B)
ENST00000492582.5:n.481C>G (CHKB)
NM_005198.4:c.225-17C>G , LRG_855t1:c.225-17C>G (CHKB)	NP_005189.2:n.225-17C>G
NR_027928.2:n.443-17C>G (CHKB-CPT1B)
NM_005198.5:c.225-17C>G (CHKB) MANE Select	NP_005189.2:n.225-17C>G