Canonical Allele Identifier: CA2657584535
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

gnomAD v4: 22-50582465-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582465G>T , CM000684.2:g.50582465G>T GRCh38
NC_000022.10:g.51020894G>T , CM000684.1:g.51020894G>T GRCh37
NC_000022.9:g.49367760G>T NCBI36
NG_012643.1:g.1203C>A
NG_029213.1:g.5535C>A , LRG_855:g.5535C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.224+93C>A (CHKB) MANE Select ENSP00000384400.3:n.224+93C>A
ENST00000406938.2:c.224+93C>A (CHKB) ENSP00000384400.2:n.224+93C>A
ENST00000463053.1:n.307-108C>A (CHKB)
ENST00000476289.5:n.390C>A (CHKB)
ENST00000479003.5:n.356C>A (CHKB)
ENST00000481673.5:n.288+93C>A (CHKB)
ENST00000484266.5:n.360C>A (CHKB)
ENST00000492556.5:n.501C>A (CHKB-CPT1B)
ENST00000492582.5:n.390C>A (CHKB)
NM_005198.4:c.224+93C>A , LRG_855t1:c.224+93C>A (CHKB) NP_005189.2:n.224+93C>A
NR_027928.2:n.442+93C>A (CHKB-CPT1B)
NM_005198.5:c.224+93C>A (CHKB) MANE Select NP_005189.2:n.224+93C>A
Search 100 bp 5'
Search 100 bp 3'