Canonical Allele Identifier: CA2410936448
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582472G= , CM000684.2:g.50582472G= GRCh38
NC_000022.10:g.51020901G= , CM000684.1:g.51020901G= GRCh37
NC_000022.9:g.49367767G= NCBI36
NG_012643.1:g.1196C=
NG_029213.1:g.5528C= , LRG_855:g.5528C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.224+86C= (CHKB) MANE Select ENSP00000384400.3:n.224+86C=
ENST00000406938.2:c.224+86C= (CHKB) ENSP00000384400.2:n.224+86C=
ENST00000463053.1:n.307-115C= (CHKB)
ENST00000476289.5:n.383C= (CHKB)
ENST00000479003.5:n.349C= (CHKB)
ENST00000481673.5:n.288+86C= (CHKB)
ENST00000484266.5:n.353C= (CHKB)
ENST00000492556.5:n.494C= (CHKB-CPT1B)
ENST00000492582.5:n.383C= (CHKB)
NM_005198.4:c.224+86C= , LRG_855t1:c.224+86C= (CHKB) NP_005189.2:n.224+86C=
NR_027928.2:n.442+86C= (CHKB-CPT1B)
NM_005198.5:c.224+86C= (CHKB) MANE Select NP_005189.2:n.224+86C=
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