Canonical Allele Identifier: CA2410935109
Community Standard Title: NM_005198.5(CHKB):c.922C= (p.Gln308=)
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50579979G= , CM000684.2:g.50579979G= GRCh38
NC_000022.10:g.51018408G= , CM000684.1:g.51018408G= GRCh37
NC_000022.9:g.49365274G= NCBI36
NG_012643.1:g.3689C=
NG_029213.1:g.8021C= , LRG_855:g.8021C=

Transcript Alleles

HGVS Amino-acid Change
NM_005198.5:c.922C= (CHKB) MANE Select NP_005189.2:p.Gln308=
ENST00000406938.3:c.922C= (CHKB) MANE Select ENSP00000384400.3:p.Gln308=
NM_005198.4:c.922C= , LRG_855t1:c.922C= (CHKB) NP_005189.2:p.Gln308=
NR_027928.2:n.1140C= (CHKB-CPT1B)
ENST00000406938.2:c.922C= (CHKB) ENSP00000384400.2:p.Gln308=
ENST00000452668.1:n.21C= (CHKB-CPT1B)
ENST00000464225.5:n.168C= (CHKB)
ENST00000468532.5:n.885C= (CHKB)
ENST00000471515.5:n.206+78C= (CHKB)
ENST00000479003.5:n.1633C= (CHKB)
ENST00000481673.5:n.1372C= (CHKB)
ENST00000484266.5:n.917C= (CHKB)
ENST00000489453.1:n.547C= (CHKB)
ENST00000492556.5:n.1778C= (CHKB-CPT1B)
ENST00000492582.5:n.1581C= (CHKB)