Canonical Allele Identifier: CA412203035
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.51021008T>C (hg19) chr22:g.50582579T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582579T>C , CM000684.2:g.50582579T>C GRCh38
NC_000022.10:g.51021008T>C , CM000684.1:g.51021008T>C GRCh37
NC_000022.9:g.49367874T>C NCBI36
NG_012643.1:g.1089A>G
NG_029213.1:g.5421A>G , LRG_855:g.5421A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.203A>G (CHKB) MANE Select ENSP00000384400.3:p.Glu68Gly
ENST00000406938.2:c.203A>G (CHKB) ENSP00000384400.2:p.Glu68Gly
ENST00000463053.1:n.307-222A>G (CHKB)
ENST00000476289.5:n.276A>G (CHKB)
ENST00000479003.5:n.242A>G (CHKB)
ENST00000481673.5:n.267A>G (CHKB)
ENST00000484266.5:n.246A>G (CHKB)
ENST00000492556.5:n.387A>G (CHKB-CPT1B)
ENST00000492582.5:n.276A>G (CHKB)
NM_005198.4:c.203A>G , LRG_855t1:c.203A>G (CHKB) NP_005189.2:p.Glu68Gly
NR_027928.2:n.421A>G (CHKB-CPT1B)
NM_005198.5:c.203A>G (CHKB) MANE Select NP_005189.2:p.Glu68Gly
Search 100 bp 5'
Search 100 bp 3'