Canonical Allele Identifier: CA412202614

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1232853808
• MyVariant Identifiers: chr22:g.51020763A>T (hg19) ; chr22:g.50582334A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582334A>T , CM000684.2:g.50582334A>T	GRCh38
NC_000022.10:g.51020763A>T , CM000684.1:g.51020763A>T	GRCh37
NC_000022.9:g.49367629A>T	NCBI36
NG_012643.1:g.1334T>A
NG_029213.1:g.5666T>A , LRG_855:g.5666T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.248T>A (CHKB) MANE Select	ENSP00000384400.3:p.Phe83Tyr
ENST00000406938.2:c.248T>A (CHKB)	ENSP00000384400.2:p.Phe83Tyr
ENST00000463053.1:n.330T>A (CHKB)
ENST00000465842.1:n.87T>A (CHKB)
ENST00000468532.5:n.125T>A (CHKB)
ENST00000476289.5:n.521T>A (CHKB)
ENST00000479003.5:n.487T>A (CHKB)
ENST00000481673.5:n.312T>A (CHKB)
ENST00000484266.5:n.491T>A (CHKB)
ENST00000492556.5:n.632T>A (CHKB-CPT1B)
ENST00000492582.5:n.521T>A (CHKB)
NM_005198.4:c.248T>A , LRG_855t1:c.248T>A (CHKB)	NP_005189.2:p.Phe83Tyr
NR_027928.2:n.466T>A (CHKB-CPT1B)
NM_005198.5:c.248T>A (CHKB) MANE Select	NP_005189.2:p.Phe83Tyr