Canonical Allele Identifier: CA640358376

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1238014123
• gnomAD v2: 22-51020979-C-T
• gnomAD v4: 22-50582550-C-T
• MyVariant Identifiers: chr22:g.51020979C>T (hg19) ; chr22:g.50582550C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582550C>T , CM000684.2:g.50582550C>T	GRCh38
NC_000022.10:g.51020979C>T , CM000684.1:g.51020979C>T	GRCh37
NC_000022.9:g.49367845C>T	NCBI36
NG_012643.1:g.1118G>A
NG_029213.1:g.5450G>A , LRG_855:g.5450G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+8G>A (CHKB) MANE Select	ENSP00000384400.3:n.224+8G>A
ENST00000406938.2:c.224+8G>A (CHKB)	ENSP00000384400.2:n.224+8G>A
ENST00000463053.1:n.307-193G>A (CHKB)
ENST00000476289.5:n.305G>A (CHKB)
ENST00000479003.5:n.271G>A (CHKB)
ENST00000481673.5:n.288+8G>A (CHKB)
ENST00000484266.5:n.275G>A (CHKB)
ENST00000492556.5:n.416G>A (CHKB-CPT1B)
ENST00000492582.5:n.305G>A (CHKB)
NM_005198.4:c.224+8G>A , LRG_855t1:c.224+8G>A (CHKB)	NP_005189.2:n.224+8G>A
NR_027928.2:n.442+8G>A (CHKB-CPT1B)
NM_005198.5:c.224+8G>A (CHKB) MANE Select	NP_005189.2:n.224+8G>A