Canonical Allele Identifier: CA412202548
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

dbSNP Id: rs1424495234

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582323G>A , CM000684.2:g.50582323G>A GRCh38
NC_000022.10:g.51020752G>A , CM000684.1:g.51020752G>A GRCh37
NC_000022.9:g.49367618G>A NCBI36
NG_012643.1:g.1345C>T
NG_029213.1:g.5677C>T , LRG_855:g.5677C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.259C>T (CHKB) MANE Select ENSP00000384400.3:p.Leu87Phe
ENST00000406938.2:c.259C>T (CHKB) ENSP00000384400.2:p.Leu87Phe
ENST00000463053.1:n.341C>T (CHKB)
ENST00000465842.1:n.98C>T (CHKB)
ENST00000468532.5:n.136C>T (CHKB)
ENST00000476289.5:n.532C>T (CHKB)
ENST00000479003.5:n.498C>T (CHKB)
ENST00000481673.5:n.323C>T (CHKB)
ENST00000484266.5:n.502C>T (CHKB)
ENST00000492556.5:n.643C>T (CHKB-CPT1B)
ENST00000492582.5:n.532C>T (CHKB)
NM_005198.4:c.259C>T , LRG_855t1:c.259C>T (CHKB) NP_005189.2:p.Leu87Phe
NR_027928.2:n.477C>T (CHKB-CPT1B)
NM_005198.5:c.259C>T (CHKB) MANE Select NP_005189.2:p.Leu87Phe