Canonical Allele Identifier: CA412203011

Gene: CHKB CHKB-CPT1B

Linked Data

• ClinVar Variation Id: 3144376
• ClinVar RCV Id: RCV004439249
• dbSNP Id: rs749686701
• gnomAD v2: 22-51021002-C-G
• gnomAD v4: 22-50582573-C-G
• MyVariant Identifiers: chr22:g.51021002C>G (hg19) ; chr22:g.50582573C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582573C>G , CM000684.2:g.50582573C>G	GRCh38
NC_000022.10:g.51021002C>G , CM000684.1:g.51021002C>G	GRCh37
NC_000022.9:g.49367868C>G	NCBI36
NG_012643.1:g.1095G>C
NG_029213.1:g.5427G>C , LRG_855:g.5427G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.209G>C (CHKB) MANE Select	ENSP00000384400.3:p.Arg70Thr
ENST00000406938.2:c.209G>C (CHKB)	ENSP00000384400.2:p.Arg70Thr
ENST00000463053.1:n.307-216G>C (CHKB)
ENST00000476289.5:n.282G>C (CHKB)
ENST00000479003.5:n.248G>C (CHKB)
ENST00000481673.5:n.273G>C (CHKB)
ENST00000484266.5:n.252G>C (CHKB)
ENST00000492556.5:n.393G>C (CHKB-CPT1B)
ENST00000492582.5:n.282G>C (CHKB)
NM_005198.4:c.209G>C , LRG_855t1:c.209G>C (CHKB)	NP_005189.2:p.Arg70Thr
NR_027928.2:n.427G>C (CHKB-CPT1B)
NM_005198.5:c.209G>C (CHKB) MANE Select	NP_005189.2:p.Arg70Thr