Canonical Allele Identifier: CA412200728
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50581502T>A , CM000684.2:g.50581502T>A GRCh38
NC_000022.10:g.51019931T>A , CM000684.1:g.51019931T>A GRCh37
NC_000022.9:g.49366797T>A NCBI36
NG_012643.1:g.2166A>T
NG_029213.1:g.6498A>T , LRG_855:g.6498A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.499A>T (CHKB) MANE Select ENSP00000384400.3:p.Ile167Phe
ENST00000406938.2:c.499A>T (CHKB) ENSP00000384400.2:p.Ile167Phe
ENST00000463053.1:n.648A>T (CHKB)
ENST00000468532.5:n.376A>T (CHKB)
ENST00000476289.5:n.772A>T (CHKB)
ENST00000479003.5:n.1124A>T (CHKB)
ENST00000481673.5:n.949A>T (CHKB)
ENST00000484266.5:n.576+747A>T (CHKB)
ENST00000492556.5:n.1269A>T (CHKB-CPT1B)
ENST00000492582.5:n.1158A>T (CHKB)
NM_005198.4:c.499A>T , LRG_855t1:c.499A>T (CHKB) NP_005189.2:p.Ile167Phe
NR_027928.2:n.717A>T (CHKB-CPT1B)
NM_005198.5:c.499A>T (CHKB) MANE Select NP_005189.2:p.Ile167Phe