Canonical Allele Identifier: CA1026671889

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v3: 22-50582480-A-C
• gnomAD v4: 22-50582480-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582480A>C , CM000684.2:g.50582480A>C	GRCh38
NC_000022.10:g.51020909A>C , CM000684.1:g.51020909A>C	GRCh37
NC_000022.9:g.49367775A>C	NCBI36
NG_012643.1:g.1188T>G
NG_029213.1:g.5520T>G , LRG_855:g.5520T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+78T>G (CHKB) MANE Select	ENSP00000384400.3:n.224+78T>G
ENST00000406938.2:c.224+78T>G (CHKB)	ENSP00000384400.2:n.224+78T>G
ENST00000463053.1:n.307-123T>G (CHKB)
ENST00000476289.5:n.375T>G (CHKB)
ENST00000479003.5:n.341T>G (CHKB)
ENST00000481673.5:n.288+78T>G (CHKB)
ENST00000484266.5:n.345T>G (CHKB)
ENST00000492556.5:n.486T>G (CHKB-CPT1B)
ENST00000492582.5:n.375T>G (CHKB)
NM_005198.4:c.224+78T>G , LRG_855t1:c.224+78T>G (CHKB)	NP_005189.2:n.224+78T>G
NR_027928.2:n.442+78T>G (CHKB-CPT1B)
NM_005198.5:c.224+78T>G (CHKB) MANE Select	NP_005189.2:n.224+78T>G