Canonical Allele Identifier: CA10323499
Community Standard Title: NM_005198.5(CHKB):c.1086C>G (p.Ser362=)
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50579453G>C , CM000684.2:g.50579453G>C GRCh38
NC_000022.10:g.51017882G>C , CM000684.1:g.51017882G>C GRCh37
NC_000022.9:g.49364748G>C NCBI36
NG_012643.1:g.4215C>G
NG_029213.1:g.8547C>G , LRG_855:g.8547C>G

Transcript Alleles

HGVS Amino-acid Change
NM_005198.5:c.1086C>G (CHKB) MANE Select NP_005189.2:p.Ser362=
ENST00000406938.3:c.1086C>G (CHKB) MANE Select ENSP00000384400.3:p.Ser362=
NM_005198.4:c.1086C>G , LRG_855t1:c.1086C>G (CHKB) NP_005189.2:p.Ser362=
NR_027928.2:n.1304C>G (CHKB-CPT1B)
ENST00000406938.2:c.1086C>G (CHKB) ENSP00000384400.2:p.Ser362=
ENST00000452668.1:n.72C>G (CHKB-CPT1B)
ENST00000453634.5:c.81C>G (CHKB-CPT1B) ENSP00000457031.1:p.Ser27=
ENST00000464225.5:n.304C>G (CHKB)
ENST00000468532.5:n.1049C>G (CHKB)
ENST00000471515.5:n.337C>G (CHKB)
ENST00000479003.5:n.1797C>G (CHKB)
ENST00000481673.5:n.1536C>G (CHKB)
ENST00000484266.5:n.1081C>G (CHKB)
ENST00000492556.5:n.1942C>G (CHKB-CPT1B)
ENST00000492582.5:n.1745C>G (CHKB)