Canonical Allele Identifier: CA325538189

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs997259706
• gnomAD v4: 22-50581483-T-C
• MyVariant Identifiers: chr22:g.51019912T>C (hg19) ; chr22:g.50581483T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581483T>C , CM000684.2:g.50581483T>C	GRCh38
NC_000022.10:g.51019912T>C , CM000684.1:g.51019912T>C	GRCh37
NC_000022.9:g.49366778T>C	NCBI36
NG_012643.1:g.2185A>G
NG_029213.1:g.6517A>G , LRG_855:g.6517A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.518A>G (CHKB) MANE Select	ENSP00000384400.3:p.Gln173Arg
ENST00000406938.2:c.518A>G (CHKB)	ENSP00000384400.2:p.Gln173Arg
ENST00000463053.1:n.667A>G (CHKB)
ENST00000468532.5:n.395A>G (CHKB)
ENST00000476289.5:n.791A>G (CHKB)
ENST00000479003.5:n.1143A>G (CHKB)
ENST00000481673.5:n.968A>G (CHKB)
ENST00000484266.5:n.576+766A>G (CHKB)
ENST00000492556.5:n.1288A>G (CHKB-CPT1B)
ENST00000492582.5:n.1177A>G (CHKB)
NM_005198.4:c.518A>G , LRG_855t1:c.518A>G (CHKB)	NP_005189.2:p.Gln173Arg
NR_027928.2:n.736A>G (CHKB-CPT1B)
NM_005198.5:c.518A>G (CHKB) MANE Select	NP_005189.2:p.Gln173Arg