Canonical Allele Identifier: CA412202581

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1178383553
• gnomAD v2: 22-51020757-C-T
• gnomAD v4: 22-50582328-C-T
• MyVariant Identifiers: chr22:g.51020757C>T (hg19) ; chr22:g.50582328C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582328C>T , CM000684.2:g.50582328C>T	GRCh38
NC_000022.10:g.51020757C>T , CM000684.1:g.51020757C>T	GRCh37
NC_000022.9:g.49367623C>T	NCBI36
NG_012643.1:g.1340G>A
NG_029213.1:g.5672G>A , LRG_855:g.5672G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.254G>A (CHKB) MANE Select	ENSP00000384400.3:p.Cys85Tyr
ENST00000406938.2:c.254G>A (CHKB)	ENSP00000384400.2:p.Cys85Tyr
ENST00000463053.1:n.336G>A (CHKB)
ENST00000465842.1:n.93G>A (CHKB)
ENST00000468532.5:n.131G>A (CHKB)
ENST00000476289.5:n.527G>A (CHKB)
ENST00000479003.5:n.493G>A (CHKB)
ENST00000481673.5:n.318G>A (CHKB)
ENST00000484266.5:n.497G>A (CHKB)
ENST00000492556.5:n.638G>A (CHKB-CPT1B)
ENST00000492582.5:n.527G>A (CHKB)
NM_005198.4:c.254G>A , LRG_855t1:c.254G>A (CHKB)	NP_005189.2:p.Cys85Tyr
NR_027928.2:n.472G>A (CHKB-CPT1B)
NM_005198.5:c.254G>A (CHKB) MANE Select	NP_005189.2:p.Cys85Tyr