Canonical Allele Identifier: CA412200356

Gene: CHKB CHKB-CPT1B

Linked Data

• MyVariant Identifiers: chr22:g.51019880C>G (hg19) ; chr22:g.50581451C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581451C>G , CM000684.2:g.50581451C>G	GRCh38
NC_000022.10:g.51019880C>G , CM000684.1:g.51019880C>G	GRCh37
NC_000022.9:g.49366746C>G	NCBI36
NG_012643.1:g.2217G>C
NG_029213.1:g.6549G>C , LRG_855:g.6549G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.550G>C (CHKB) MANE Select	ENSP00000384400.3:p.Glu184Gln
ENST00000406938.2:c.550G>C (CHKB)	ENSP00000384400.2:p.Glu184Gln
ENST00000463053.1:n.699G>C (CHKB)
ENST00000468532.5:n.427G>C (CHKB)
ENST00000476289.5:n.823G>C (CHKB)
ENST00000479003.5:n.1175G>C (CHKB)
ENST00000481673.5:n.1000G>C (CHKB)
ENST00000484266.5:n.577-791G>C (CHKB)
ENST00000492556.5:n.1320G>C (CHKB-CPT1B)
ENST00000492582.5:n.1209G>C (CHKB)
NM_005198.4:c.550G>C , LRG_855t1:c.550G>C (CHKB)	NP_005189.2:p.Glu184Gln
NR_027928.2:n.768G>C (CHKB-CPT1B)
NM_005198.5:c.550G>C (CHKB) MANE Select	NP_005189.2:p.Glu184Gln