Canonical Allele Identifier: CA10323645

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50580278G>A , CM000684.2:g.50580278G>A	GRCh38
NC_000022.10:g.51018707G>A , CM000684.1:g.51018707G>A	GRCh37
NC_000022.9:g.49365573G>A	NCBI36
NG_012643.1:g.3390C>T
NG_029213.1:g.7722C>T , LRG_855:g.7722C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005198.5:c.737-7C>T (CHKB) MANE Select	NP_005189.2:n.737-7C>T
ENST00000406938.3:c.737-7C>T (CHKB) MANE Select	ENSP00000384400.3:n.737-7C>T
NM_005198.4:c.737-7C>T , LRG_855t1:c.737-7C>T (CHKB)	NP_005189.2:n.737-7C>T
NR_027928.2:n.955-7C>T (CHKB-CPT1B)
ENST00000406938.2:c.737-7C>T (CHKB)	ENSP00000384400.2:n.737-7C>T
ENST00000468532.5:n.693C>T (CHKB)
ENST00000471515.5:n.99-7C>T (CHKB)
ENST00000479003.5:n.1441C>T (CHKB)
ENST00000481673.5:n.1187-7C>T (CHKB)
ENST00000484266.5:n.732-7C>T (CHKB)
ENST00000489453.1:n.355C>T (CHKB)
ENST00000492556.5:n.1586C>T (CHKB-CPT1B)
ENST00000492582.5:n.1396-7C>T (CHKB)