Canonical Allele Identifier: CA515275858
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1112889
ClinVar RCV Id: RCV001440074
dbSNP Id: rs1273220759
gnomAD v2: 22-51021007-C-T
gnomAD v3: 22-50582578-C-T
gnomAD v4: 22-50582578-C-T
MyVariant Identifiers: chr22:g.51021007C>T (hg19) chr22:g.50582578C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582578C>T , CM000684.2:g.50582578C>T GRCh38
NC_000022.10:g.51021007C>T , CM000684.1:g.51021007C>T GRCh37
NC_000022.9:g.49367873C>T NCBI36
NG_012643.1:g.1090G>A
NG_029213.1:g.5422G>A , LRG_855:g.5422G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.204G>A (CHKB) MANE Select ENSP00000384400.3:p.Glu68=
ENST00000406938.2:c.204G>A (CHKB) ENSP00000384400.2:p.Glu68=
ENST00000463053.1:n.307-221G>A (CHKB)
ENST00000476289.5:n.277G>A (CHKB)
ENST00000479003.5:n.243G>A (CHKB)
ENST00000481673.5:n.268G>A (CHKB)
ENST00000484266.5:n.247G>A (CHKB)
ENST00000492556.5:n.388G>A (CHKB-CPT1B)
ENST00000492582.5:n.277G>A (CHKB)
NM_005198.4:c.204G>A , LRG_855t1:c.204G>A (CHKB) NP_005189.2:p.Glu68=
NR_027928.2:n.422G>A (CHKB-CPT1B)
NM_005198.5:c.204G>A (CHKB) MANE Select NP_005189.2:p.Glu68=
Search 100 bp 5'
Search 100 bp 3'