Canonical Allele Identifier: CA2410936170
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582074C= , CM000684.2:g.50582074C= GRCh38
NC_000022.10:g.51020503C= , CM000684.1:g.51020503C= GRCh37
NC_000022.9:g.49367369C= NCBI36
NG_012643.1:g.1594G=
NG_029213.1:g.5926G= , LRG_855:g.5926G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.333+175G= (CHKB) MANE Select ENSP00000384400.3:n.333+175G=
ENST00000406938.2:c.333+175G= (CHKB) ENSP00000384400.2:n.333+175G=
ENST00000463053.1:n.437G= (CHKB)
ENST00000465842.1:n.172+175G= (CHKB)
ENST00000468532.5:n.210+175G= (CHKB)
ENST00000476289.5:n.606+175G= (CHKB)
ENST00000479003.5:n.747G= (CHKB)
ENST00000481673.5:n.572G= (CHKB)
ENST00000484266.5:n.576+175G= (CHKB)
ENST00000492556.5:n.892G= (CHKB-CPT1B)
ENST00000492582.5:n.781G= (CHKB)
NM_005198.4:c.333+175G= , LRG_855t1:c.333+175G= (CHKB) NP_005189.2:n.333+175G=
NR_027928.2:n.551+175G= (CHKB-CPT1B)
NM_005198.5:c.333+175G= (CHKB) MANE Select NP_005189.2:n.333+175G=