Canonical Allele Identifier: CA10323880
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

ClinVar Variation Id: 962023
ClinVar RCV Id: RCV001235805
dbSNP Id: rs758217425
ExAC: 22:51020991 C / T
gnomAD v2: 22-51020991-C-T
gnomAD v3: 22-50582562-C-T
gnomAD v4: 22-50582562-C-T
MyVariant Identifiers: chr22:g.51020991C>T (hg19) chr22:g.50582562C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582562C>T , CM000684.2:g.50582562C>T GRCh38
NC_000022.10:g.51020991C>T , CM000684.1:g.51020991C>T GRCh37
NC_000022.9:g.49367857C>T NCBI36
NG_012643.1:g.1106G>A
NG_029213.1:g.5438G>A , LRG_855:g.5438G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.220G>A (CHKB) MANE Select ENSP00000384400.3:p.Val74Met
ENST00000406938.2:c.220G>A (CHKB) ENSP00000384400.2:p.Val74Met
ENST00000463053.1:n.307-205G>A (CHKB)
ENST00000476289.5:n.293G>A (CHKB)
ENST00000479003.5:n.259G>A (CHKB)
ENST00000481673.5:n.284G>A (CHKB)
ENST00000484266.5:n.263G>A (CHKB)
ENST00000492556.5:n.404G>A (CHKB-CPT1B)
ENST00000492582.5:n.293G>A (CHKB)
NM_005198.4:c.220G>A , LRG_855t1:c.220G>A (CHKB) NP_005189.2:p.Val74Met
NR_027928.2:n.438G>A (CHKB-CPT1B)
NM_005198.5:c.220G>A (CHKB) MANE Select NP_005189.2:p.Val74Met
Search 100 bp 5'
Search 100 bp 3'