Canonical Allele Identifier: CA412200348

Gene: CHKB CHKB-CPT1B

Linked Data

• MyVariant Identifiers: chr22:g.51019878C>G (hg19) ; chr22:g.50581449C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581449C>G , CM000684.2:g.50581449C>G	GRCh38
NC_000022.10:g.51019878C>G , CM000684.1:g.51019878C>G	GRCh37
NC_000022.9:g.49366744C>G	NCBI36
NG_012643.1:g.2219G>C
NG_029213.1:g.6551G>C , LRG_855:g.6551G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.552G>C (CHKB) MANE Select	ENSP00000384400.3:p.Glu184Asp
ENST00000406938.2:c.552G>C (CHKB)	ENSP00000384400.2:p.Glu184Asp
ENST00000463053.1:n.701G>C (CHKB)
ENST00000468532.5:n.429G>C (CHKB)
ENST00000476289.5:n.825G>C (CHKB)
ENST00000479003.5:n.1177G>C (CHKB)
ENST00000481673.5:n.1002G>C (CHKB)
ENST00000484266.5:n.577-789G>C (CHKB)
ENST00000492556.5:n.1322G>C (CHKB-CPT1B)
ENST00000492582.5:n.1211G>C (CHKB)
NM_005198.4:c.552G>C , LRG_855t1:c.552G>C (CHKB)	NP_005189.2:p.Glu184Asp
NR_027928.2:n.770G>C (CHKB-CPT1B)
NM_005198.5:c.552G>C (CHKB) MANE Select	NP_005189.2:p.Glu184Asp