Canonical Allele Identifier: CA412200631

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1487903539
• gnomAD v3: 22-50581490-T-C
• gnomAD v4: 22-50581490-T-C
• MyVariant Identifiers: chr22:g.51019919T>C (hg19) ; chr22:g.50581490T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581490T>C , CM000684.2:g.50581490T>C	GRCh38
NC_000022.10:g.51019919T>C , CM000684.1:g.51019919T>C	GRCh37
NC_000022.9:g.49366785T>C	NCBI36
NG_012643.1:g.2178A>G
NG_029213.1:g.6510A>G , LRG_855:g.6510A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.511A>G (CHKB) MANE Select	ENSP00000384400.3:p.Met171Val
ENST00000406938.2:c.511A>G (CHKB)	ENSP00000384400.2:p.Met171Val
ENST00000463053.1:n.660A>G (CHKB)
ENST00000468532.5:n.388A>G (CHKB)
ENST00000476289.5:n.784A>G (CHKB)
ENST00000479003.5:n.1136A>G (CHKB)
ENST00000481673.5:n.961A>G (CHKB)
ENST00000484266.5:n.576+759A>G (CHKB)
ENST00000492556.5:n.1281A>G (CHKB-CPT1B)
ENST00000492582.5:n.1170A>G (CHKB)
NM_005198.4:c.511A>G , LRG_855t1:c.511A>G (CHKB)	NP_005189.2:p.Met171Val
NR_027928.2:n.729A>G (CHKB-CPT1B)
NM_005198.5:c.511A>G (CHKB) MANE Select	NP_005189.2:p.Met171Val