Canonical Allele Identifier: CA2657583864

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50581415-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581415C>T , CM000684.2:g.50581415C>T	GRCh38
NC_000022.10:g.51019844C>T , CM000684.1:g.51019844C>T	GRCh37
NC_000022.9:g.49366710C>T	NCBI36
NG_012643.1:g.2253G>A
NG_029213.1:g.6585G>A , LRG_855:g.6585G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.581+5G>A (CHKB) MANE Select	ENSP00000384400.3:n.581+5G>A
ENST00000406938.2:c.581+5G>A (CHKB)	ENSP00000384400.2:n.581+5G>A
ENST00000463053.1:n.730+5G>A (CHKB)
ENST00000468532.5:n.458+5G>A (CHKB)
ENST00000476289.5:n.854+5G>A (CHKB)
ENST00000479003.5:n.1206+5G>A (CHKB)
ENST00000481673.5:n.1031+5G>A (CHKB)
ENST00000484266.5:n.577-755G>A (CHKB)
ENST00000492556.5:n.1351+5G>A (CHKB-CPT1B)
ENST00000492582.5:n.1240+5G>A (CHKB)
NM_005198.4:c.581+5G>A , LRG_855t1:c.581+5G>A (CHKB)	NP_005189.2:n.581+5G>A
NR_027928.2:n.799+5G>A (CHKB-CPT1B)
NM_005198.5:c.581+5G>A (CHKB) MANE Select	NP_005189.2:n.581+5G>A