Canonical Allele Identifier: CA259956
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.50580198A>T
GRCh37 chr22:g.51018627A>T
gnomAD v2:
22:51018627 A / T
gnomAD v3:
22:50580198 A / T
gnomAD v4:
chr22-50580198-A-T
Joint Max Group AF 0.00001803 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001746 (NFE)
ClinVar RCV:
RCV000023942
ClinVar Variation:
30952
dbSNP:
750764003
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50580198A>T , CM000684.2:g.50580198A>T GRCh38
NC_000022.10:g.51018627A>T , CM000684.1:g.51018627A>T GRCh37
NC_000022.9:g.49365493A>T NCBI36
NG_012643.1:g.3470T>A
NG_029213.1:g.7802T>A , LRG_855:g.7802T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.810T>A (CHKB) MANE Select ENSP00000384400.3:p.Tyr270Ter
ENST00000406938.2:c.810T>A (CHKB) ENSP00000384400.2:p.Tyr270Ter
ENST00000464225.5:n.56T>A (CHKB)
ENST00000468532.5:n.773T>A (CHKB)
ENST00000471515.5:n.172T>A (CHKB)
ENST00000479003.5:n.1521T>A (CHKB)
ENST00000481673.5:n.1260T>A (CHKB)
ENST00000484266.5:n.805T>A (CHKB)
ENST00000489453.1:n.435T>A (CHKB)
ENST00000492556.5:n.1666T>A (CHKB-CPT1B)
ENST00000492582.5:n.1469T>A (CHKB)
NM_005198.4:c.810T>A , LRG_855t1:c.810T>A (CHKB) NP_005189.2:p.Tyr270Ter
NR_027928.2:n.1028T>A (CHKB-CPT1B)
NM_005198.5:c.810T>A (CHKB) MANE Select NP_005189.2:p.Tyr270Ter
Search 100 bp 5'
Search 100 bp 3'