Canonical Allele Identifier: CA2577767412

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50582201-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582201C>T , CM000684.2:g.50582201C>T	GRCh38
NC_000022.10:g.51020630C>T , CM000684.1:g.51020630C>T	GRCh37
NC_000022.9:g.49367496C>T	NCBI36
NG_012643.1:g.1467G>A
NG_029213.1:g.5799G>A , LRG_855:g.5799G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.333+48G>A (CHKB) MANE Select	ENSP00000384400.3:n.333+48G>A
ENST00000406938.2:c.333+48G>A (CHKB)	ENSP00000384400.2:n.333+48G>A
ENST00000463053.1:n.415+48G>A (CHKB)
ENST00000465842.1:n.172+48G>A (CHKB)
ENST00000468532.5:n.210+48G>A (CHKB)
ENST00000476289.5:n.606+48G>A (CHKB)
ENST00000479003.5:n.620G>A (CHKB)
ENST00000481673.5:n.445G>A (CHKB)
ENST00000484266.5:n.576+48G>A (CHKB)
ENST00000492556.5:n.765G>A (CHKB-CPT1B)
ENST00000492582.5:n.654G>A (CHKB)
NM_005198.4:c.333+48G>A , LRG_855t1:c.333+48G>A (CHKB)	NP_005189.2:n.333+48G>A
NR_027928.2:n.551+48G>A (CHKB-CPT1B)
NM_005198.5:c.333+48G>A (CHKB) MANE Select	NP_005189.2:n.333+48G>A