Canonical Allele Identifier: CA2410936592
Community Standard Title: NM_005198.5(CHKB):c.116C= (p.Ser39=)
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582666G= , CM000684.2:g.50582666G= GRCh38
NC_000022.10:g.51021095G= , CM000684.1:g.51021095G= GRCh37
NC_000022.9:g.49367961G= NCBI36
NG_012643.1:g.1002C=
NG_029213.1:g.5334C= , LRG_855:g.5334C=

Transcript Alleles

HGVS Amino-acid Change
NM_005198.5:c.116C= (CHKB) MANE Select NP_005189.2:p.Ser39=
ENST00000406938.3:c.116C= (CHKB) MANE Select ENSP00000384400.3:p.Ser39=
NM_005198.4:c.116C= , LRG_855t1:c.116C= (CHKB) NP_005189.2:p.Ser39=
NR_027928.2:n.334C= (CHKB-CPT1B)
ENST00000406938.2:c.116C= (CHKB) ENSP00000384400.2:p.Ser39=
ENST00000463053.1:n.307-309C= (CHKB)
ENST00000476289.5:n.189C= (CHKB)
ENST00000479003.5:n.155C= (CHKB)
ENST00000481673.5:n.180C= (CHKB)
ENST00000484266.5:n.159C= (CHKB)
ENST00000492556.5:n.300C= (CHKB-CPT1B)
ENST00000492582.5:n.189C= (CHKB)