Canonical Allele Identifier: CA412202656

Gene: CHKB CHKB-CPT1B

Linked Data

• MyVariant Identifiers: chr22:g.51020772T>G (hg19) ; chr22:g.50582343T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582343T>G , CM000684.2:g.50582343T>G	GRCh38
NC_000022.10:g.51020772T>G , CM000684.1:g.51020772T>G	GRCh37
NC_000022.9:g.49367638T>G	NCBI36
NG_012643.1:g.1325A>C
NG_029213.1:g.5657A>C , LRG_855:g.5657A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.239A>C (CHKB) MANE Select	ENSP00000384400.3:p.Asn80Thr
ENST00000406938.2:c.239A>C (CHKB)	ENSP00000384400.2:p.Asn80Thr
ENST00000463053.1:n.321A>C (CHKB)
ENST00000465842.1:n.78A>C (CHKB)
ENST00000468532.5:n.116A>C (CHKB)
ENST00000476289.5:n.512A>C (CHKB)
ENST00000479003.5:n.478A>C (CHKB)
ENST00000481673.5:n.303A>C (CHKB)
ENST00000484266.5:n.482A>C (CHKB)
ENST00000492556.5:n.623A>C (CHKB-CPT1B)
ENST00000492582.5:n.512A>C (CHKB)
NM_005198.4:c.239A>C , LRG_855t1:c.239A>C (CHKB)	NP_005189.2:p.Asn80Thr
NR_027928.2:n.457A>C (CHKB-CPT1B)
NM_005198.5:c.239A>C (CHKB) MANE Select	NP_005189.2:p.Asn80Thr