Canonical Allele Identifier: CA10323899

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582631G>A , CM000684.2:g.50582631G>A	GRCh38
NC_000022.10:g.51021060G>A , CM000684.1:g.51021060G>A	GRCh37
NC_000022.9:g.49367926G>A	NCBI36
NG_012643.1:g.1037C>T
NG_029213.1:g.5369C>T , LRG_855:g.5369C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005198.5:c.151C>T (CHKB) MANE Select	NP_005189.2:p.Gln51Ter
ENST00000406938.3:c.151C>T (CHKB) MANE Select	ENSP00000384400.3:p.Gln51Ter
NM_005198.4:c.151C>T , LRG_855t1:c.151C>T (CHKB)	NP_005189.2:p.Gln51Ter
NR_027928.2:n.369C>T (CHKB-CPT1B)
ENST00000406938.2:c.151C>T (CHKB)	ENSP00000384400.2:p.Gln51Ter
ENST00000463053.1:n.307-274C>T (CHKB)
ENST00000476289.5:n.224C>T (CHKB)
ENST00000479003.5:n.190C>T (CHKB)
ENST00000481673.5:n.215C>T (CHKB)
ENST00000484266.5:n.194C>T (CHKB)
ENST00000492556.5:n.335C>T (CHKB-CPT1B)
ENST00000492582.5:n.224C>T (CHKB)