Canonical Allele Identifier: CA412202534

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50582320-G-A
• MyVariant Identifiers: chr22:g.51020749G>A (hg19) ; chr22:g.50582320G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582320G>A , CM000684.2:g.50582320G>A	GRCh38
NC_000022.10:g.51020749G>A , CM000684.1:g.51020749G>A	GRCh37
NC_000022.9:g.49367615G>A	NCBI36
NG_012643.1:g.1348C>T
NG_029213.1:g.5680C>T , LRG_855:g.5680C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.262C>T (CHKB) MANE Select	ENSP00000384400.3:p.Pro88Ser
ENST00000406938.2:c.262C>T (CHKB)	ENSP00000384400.2:p.Pro88Ser
ENST00000463053.1:n.344C>T (CHKB)
ENST00000465842.1:n.101C>T (CHKB)
ENST00000468532.5:n.139C>T (CHKB)
ENST00000476289.5:n.535C>T (CHKB)
ENST00000479003.5:n.501C>T (CHKB)
ENST00000481673.5:n.326C>T (CHKB)
ENST00000484266.5:n.505C>T (CHKB)
ENST00000492556.5:n.646C>T (CHKB-CPT1B)
ENST00000492582.5:n.535C>T (CHKB)
NM_005198.4:c.262C>T , LRG_855t1:c.262C>T (CHKB)	NP_005189.2:p.Pro88Ser
NR_027928.2:n.480C>T (CHKB-CPT1B)
NM_005198.5:c.262C>T (CHKB) MANE Select	NP_005189.2:p.Pro88Ser