Canonical Allele Identifier: CA515275847

Gene: CHKB CHKB-CPT1B

Linked Data

• ClinVar Variation Id: 1528218
• ClinVar RCV Id: RCV002077441
• dbSNP Id: rs2146658662
• MyVariant Identifiers: chr22:g.51020989C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582560C>G , CM000684.2:g.50582560C>G	GRCh38
NC_000022.10:g.51020989C>G , CM000684.1:g.51020989C>G	GRCh37
NC_000022.9:g.49367855C>G	NCBI36
NG_012643.1:g.1108G>C
NG_029213.1:g.5440G>C , LRG_855:g.5440G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.222G>C (CHKB) MANE Select	ENSP00000384400.3:p.Val74=
ENST00000406938.2:c.222G>C (CHKB)	ENSP00000384400.2:p.Val74=
ENST00000463053.1:n.307-203G>C (CHKB)
ENST00000476289.5:n.295G>C (CHKB)
ENST00000479003.5:n.261G>C (CHKB)
ENST00000481673.5:n.286G>C (CHKB)
ENST00000484266.5:n.265G>C (CHKB)
ENST00000492556.5:n.406G>C (CHKB-CPT1B)
ENST00000492582.5:n.295G>C (CHKB)
NM_005198.4:c.222G>C , LRG_855t1:c.222G>C (CHKB)	NP_005189.2:p.Val74=
NR_027928.2:n.440G>C (CHKB-CPT1B)
NM_005198.5:c.222G>C (CHKB) MANE Select	NP_005189.2:p.Val74=