Canonical Allele Identifier: CA412202993
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1365781
ClinVar RCV Id: RCV001942778
dbSNP Id: rs1399285509
gnomAD v4: 22-50582570-A-C
MyVariant Identifiers: chr22:g.51020999A>C (hg19) chr22:g.50582570A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582570A>C , CM000684.2:g.50582570A>C GRCh38
NC_000022.10:g.51020999A>C , CM000684.1:g.51020999A>C GRCh37
NC_000022.9:g.49367865A>C NCBI36
NG_012643.1:g.1098T>G
NG_029213.1:g.5430T>G , LRG_855:g.5430T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.212T>G (CHKB) MANE Select ENSP00000384400.3:p.Val71Gly
ENST00000406938.2:c.212T>G (CHKB) ENSP00000384400.2:p.Val71Gly
ENST00000463053.1:n.307-213T>G (CHKB)
ENST00000476289.5:n.285T>G (CHKB)
ENST00000479003.5:n.251T>G (CHKB)
ENST00000481673.5:n.276T>G (CHKB)
ENST00000484266.5:n.255T>G (CHKB)
ENST00000492556.5:n.396T>G (CHKB-CPT1B)
ENST00000492582.5:n.285T>G (CHKB)
NM_005198.4:c.212T>G , LRG_855t1:c.212T>G (CHKB) NP_005189.2:p.Val71Gly
NR_027928.2:n.430T>G (CHKB-CPT1B)
NM_005198.5:c.212T>G (CHKB) MANE Select NP_005189.2:p.Val71Gly
Search 100 bp 5'
Search 100 bp 3'