Canonical Allele Identifier: CA2657584603

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50582504-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582504G>T , CM000684.2:g.50582504G>T	GRCh38
NC_000022.10:g.51020933G>T , CM000684.1:g.51020933G>T	GRCh37
NC_000022.9:g.49367799G>T	NCBI36
NG_012643.1:g.1164C>A
NG_029213.1:g.5496C>A , LRG_855:g.5496C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+54C>A (CHKB) MANE Select	ENSP00000384400.3:n.224+54C>A
ENST00000406938.2:c.224+54C>A (CHKB)	ENSP00000384400.2:n.224+54C>A
ENST00000463053.1:n.307-147C>A (CHKB)
ENST00000476289.5:n.351C>A (CHKB)
ENST00000479003.5:n.317C>A (CHKB)
ENST00000481673.5:n.288+54C>A (CHKB)
ENST00000484266.5:n.321C>A (CHKB)
ENST00000492556.5:n.462C>A (CHKB-CPT1B)
ENST00000492582.5:n.351C>A (CHKB)
NM_005198.4:c.224+54C>A , LRG_855t1:c.224+54C>A (CHKB)	NP_005189.2:n.224+54C>A
NR_027928.2:n.442+54C>A (CHKB-CPT1B)
NM_005198.5:c.224+54C>A (CHKB) MANE Select	NP_005189.2:n.224+54C>A