Canonical Allele Identifier: CA412200223

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs139818555
• MyVariant Identifiers: chr22:g.51019849C>G (hg19) ; chr22:g.50581420C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581420C>G , CM000684.2:g.50581420C>G	GRCh38
NC_000022.10:g.51019849C>G , CM000684.1:g.51019849C>G	GRCh37
NC_000022.9:g.49366715C>G	NCBI36
NG_012643.1:g.2248G>C
NG_029213.1:g.6580G>C , LRG_855:g.6580G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.581G>C (CHKB) MANE Select	ENSP00000384400.3:p.Arg194Pro
ENST00000406938.2:c.581G>C (CHKB)	ENSP00000384400.2:p.Arg194Pro
ENST00000463053.1:n.730G>C (CHKB)
ENST00000468532.5:n.458G>C (CHKB)
ENST00000476289.5:n.854G>C (CHKB)
ENST00000479003.5:n.1206G>C (CHKB)
ENST00000481673.5:n.1031G>C (CHKB)
ENST00000484266.5:n.577-760G>C (CHKB)
ENST00000492556.5:n.1351G>C (CHKB-CPT1B)
ENST00000492582.5:n.1240G>C (CHKB)
NM_005198.4:c.581G>C , LRG_855t1:c.581G>C (CHKB)	NP_005189.2:p.Arg194Pro
NR_027928.2:n.799G>C (CHKB-CPT1B)
NM_005198.5:c.581G>C (CHKB) MANE Select	NP_005189.2:p.Arg194Pro