Canonical Allele Identifier: CA412200940

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs2070690979
• MyVariant Identifiers: chr22:g.51019961C>G (hg19) ; chr22:g.50581532C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581532C>G , CM000684.2:g.50581532C>G	GRCh38
NC_000022.10:g.51019961C>G , CM000684.1:g.51019961C>G	GRCh37
NC_000022.9:g.49366827C>G	NCBI36
NG_012643.1:g.2136G>C
NG_029213.1:g.6468G>C , LRG_855:g.6468G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.469G>C (CHKB) MANE Select	ENSP00000384400.3:p.Glu157Gln
ENST00000406938.2:c.469G>C (CHKB)	ENSP00000384400.2:p.Glu157Gln
ENST00000463053.1:n.618G>C (CHKB)
ENST00000468532.5:n.346G>C (CHKB)
ENST00000476289.5:n.742G>C (CHKB)
ENST00000479003.5:n.1094G>C (CHKB)
ENST00000481673.5:n.919G>C (CHKB)
ENST00000484266.5:n.576+717G>C (CHKB)
ENST00000492556.5:n.1239G>C (CHKB-CPT1B)
ENST00000492582.5:n.1128G>C (CHKB)
NM_005198.4:c.469G>C , LRG_855t1:c.469G>C (CHKB)	NP_005189.2:p.Glu157Gln
NR_027928.2:n.687G>C (CHKB-CPT1B)
NM_005198.5:c.469G>C (CHKB) MANE Select	NP_005189.2:p.Glu157Gln