Canonical Allele Identifier: CA152364
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

ClinVar Variation Id: 128728
ClinVar RCV Id: RCV000116701 RCV000530379
dbSNP Id: rs80067609
ExAC: 22:51020995 G / A
gnomAD v2: 22-51020995-G-A
gnomAD v3: 22-50582566-G-A
gnomAD v4: 22-50582566-G-A
MyVariant Identifiers: chr22:g.51020995G>A (hg19) chr22:g.50582566G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582566G>A , CM000684.2:g.50582566G>A GRCh38
NC_000022.10:g.51020995G>A , CM000684.1:g.51020995G>A GRCh37
NC_000022.9:g.49367861G>A NCBI36
NG_012643.1:g.1102C>T
NG_029213.1:g.5434C>T , LRG_855:g.5434C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.216C>T (CHKB) MANE Select ENSP00000384400.3:p.Tyr72=
ENST00000406938.2:c.216C>T (CHKB) ENSP00000384400.2:p.Tyr72=
ENST00000463053.1:n.307-209C>T (CHKB)
ENST00000476289.5:n.289C>T (CHKB)
ENST00000479003.5:n.255C>T (CHKB)
ENST00000481673.5:n.280C>T (CHKB)
ENST00000484266.5:n.259C>T (CHKB)
ENST00000492556.5:n.400C>T (CHKB-CPT1B)
ENST00000492582.5:n.289C>T (CHKB)
NM_005198.4:c.216C>T , LRG_855t1:c.216C>T (CHKB) NP_005189.2:p.Tyr72=
NR_027928.2:n.434C>T (CHKB-CPT1B)
NM_005198.5:c.216C>T (CHKB) MANE Select NP_005189.2:p.Tyr72=
Search 100 bp 5'
Search 100 bp 3'