Canonical Allele Identifier: CA259966
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

ClinVar Variation Id: 30956
ClinVar RCV Id: RCV000023946
dbSNP Id: rs786205118

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50580564C>T , CM000684.2:g.50580564C>T GRCh38
NC_000022.10:g.51018993C>T , CM000684.1:g.51018993C>T GRCh37
NC_000022.9:g.49365859C>T NCBI36
NG_012643.1:g.3104G>A
NG_029213.1:g.7436G>A , LRG_855:g.7436G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000406938.3:c.677+1G>A (CHKB) MANE Select ENSP00000384400.3:n.677+1G>A
ENST00000406938.2:c.677+1G>A (CHKB) ENSP00000384400.2:n.677+1G>A
ENST00000463053.1:n.826+1G>A (CHKB)
ENST00000468532.5:n.554+1G>A (CHKB)
ENST00000471515.5:n.39+1G>A (CHKB)
ENST00000476289.5:n.950+1G>A (CHKB)
ENST00000479003.5:n.1302+1G>A (CHKB)
ENST00000481673.5:n.1127+1G>A (CHKB)
ENST00000484266.5:n.672+1G>A (CHKB)
ENST00000489453.1:n.216+1G>A (CHKB)
ENST00000492556.5:n.1447+1G>A (CHKB-CPT1B)
ENST00000492582.5:n.1336+1G>A (CHKB)
NM_005198.4:c.677+1G>A , LRG_855t1:c.677+1G>A (CHKB) NP_005189.2:n.677+1G>A
NR_027928.2:n.895+1G>A (CHKB-CPT1B)
NM_005198.5:c.677+1G>A (CHKB) MANE Select NP_005189.2:n.677+1G>A