Canonical Allele Identifier: CA412202686
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582347T>A , CM000684.2:g.50582347T>A GRCh38
NC_000022.10:g.51020776T>A , CM000684.1:g.51020776T>A GRCh37
NC_000022.9:g.49367642T>A NCBI36
NG_012643.1:g.1321A>T
NG_029213.1:g.5653A>T , LRG_855:g.5653A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.235A>T (CHKB) MANE Select ENSP00000384400.3:p.Ser79Cys
ENST00000406938.2:c.235A>T (CHKB) ENSP00000384400.2:p.Ser79Cys
ENST00000463053.1:n.317A>T (CHKB)
ENST00000465842.1:n.74A>T (CHKB)
ENST00000468532.5:n.112A>T (CHKB)
ENST00000476289.5:n.508A>T (CHKB)
ENST00000479003.5:n.474A>T (CHKB)
ENST00000481673.5:n.299A>T (CHKB)
ENST00000484266.5:n.478A>T (CHKB)
ENST00000492556.5:n.619A>T (CHKB-CPT1B)
ENST00000492582.5:n.508A>T (CHKB)
NM_005198.4:c.235A>T , LRG_855t1:c.235A>T (CHKB) NP_005189.2:p.Ser79Cys
NR_027928.2:n.453A>T (CHKB-CPT1B)
NM_005198.5:c.235A>T (CHKB) MANE Select NP_005189.2:p.Ser79Cys