Canonical Allele Identifier: CA10323712

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50580600C>A , CM000684.2:g.50580600C>A	GRCh38
NC_000022.10:g.51019029C>A , CM000684.1:g.51019029C>A	GRCh37
NC_000022.9:g.49365895C>A	NCBI36
NG_012643.1:g.3068G>T
NG_029213.1:g.7400G>T , LRG_855:g.7400G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005198.5:c.642G>T (CHKB) MANE Select	NP_005189.2:p.Glu214Asp
ENST00000406938.3:c.642G>T (CHKB) MANE Select	ENSP00000384400.3:p.Glu214Asp
NM_005198.4:c.642G>T , LRG_855t1:c.642G>T (CHKB)	NP_005189.2:p.Glu214Asp
NR_027928.2:n.860G>T (CHKB-CPT1B)
ENST00000406938.2:c.642G>T (CHKB)	ENSP00000384400.2:p.Glu214Asp
ENST00000463053.1:n.791G>T (CHKB)
ENST00000468532.5:n.519G>T (CHKB)
ENST00000471515.5:n.4G>T (CHKB)
ENST00000476289.5:n.915G>T (CHKB)
ENST00000479003.5:n.1267G>T (CHKB)
ENST00000481673.5:n.1092G>T (CHKB)
ENST00000484266.5:n.637G>T (CHKB)
ENST00000489453.1:n.181G>T (CHKB)
ENST00000492556.5:n.1412G>T (CHKB-CPT1B)
ENST00000492582.5:n.1301G>T (CHKB)