Canonical Allele Identifier: CA2657584490
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

gnomAD v4: 22-50582429-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582429C>A , CM000684.2:g.50582429C>A GRCh38
NC_000022.10:g.51020858C>A , CM000684.1:g.51020858C>A GRCh37
NC_000022.9:g.49367724C>A NCBI36
NG_012643.1:g.1239G>T
NG_029213.1:g.5571G>T , LRG_855:g.5571G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.225-72G>T (CHKB) MANE Select ENSP00000384400.3:n.225-72G>T
ENST00000406938.2:c.225-72G>T (CHKB) ENSP00000384400.2:n.225-72G>T
ENST00000463053.1:n.307-72G>T (CHKB)
ENST00000468532.5:n.30G>T (CHKB)
ENST00000476289.5:n.426G>T (CHKB)
ENST00000479003.5:n.392G>T (CHKB)
ENST00000481673.5:n.289-72G>T (CHKB)
ENST00000484266.5:n.396G>T (CHKB)
ENST00000492556.5:n.537G>T (CHKB-CPT1B)
ENST00000492582.5:n.426G>T (CHKB)
NM_005198.4:c.225-72G>T , LRG_855t1:c.225-72G>T (CHKB) NP_005189.2:n.225-72G>T
NR_027928.2:n.443-72G>T (CHKB-CPT1B)
NM_005198.5:c.225-72G>T (CHKB) MANE Select NP_005189.2:n.225-72G>T
Search 100 bp 5'
Search 100 bp 3'