Canonical Allele Identifier: CA515274536

Gene: CHKB CHKB-CPT1B

Linked Data

• ClinVar Variation Id: 2413922
• ClinVar RCV Id: RCV003106255
• gnomAD v4: 22-50581548-C-T
• MyVariant Identifiers: chr22:g.51019977C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581548C>T , CM000684.2:g.50581548C>T	GRCh38
NC_000022.10:g.51019977C>T , CM000684.1:g.51019977C>T	GRCh37
NC_000022.9:g.49366843C>T	NCBI36
NG_012643.1:g.2120G>A
NG_029213.1:g.6452G>A , LRG_855:g.6452G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.453G>A (CHKB) MANE Select	ENSP00000384400.3:p.Arg151=
ENST00000406938.2:c.453G>A (CHKB)	ENSP00000384400.2:p.Arg151=
ENST00000463053.1:n.602G>A (CHKB)
ENST00000468532.5:n.330G>A (CHKB)
ENST00000476289.5:n.726G>A (CHKB)
ENST00000479003.5:n.1078G>A (CHKB)
ENST00000481673.5:n.903G>A (CHKB)
ENST00000484266.5:n.576+701G>A (CHKB)
ENST00000492556.5:n.1223G>A (CHKB-CPT1B)
ENST00000492582.5:n.1112G>A (CHKB)
NM_005198.4:c.453G>A , LRG_855t1:c.453G>A (CHKB)	NP_005189.2:p.Arg151=
NR_027928.2:n.671G>A (CHKB-CPT1B)
NM_005198.5:c.453G>A (CHKB) MANE Select	NP_005189.2:p.Arg151=