Canonical Allele Identifier: CA754073115

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1464226700
• MyVariant Identifiers: chr22:g.51019985G>A (hg19) ; chr22:g.50581556G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581556G>A , CM000684.2:g.50581556G>A	GRCh38
NC_000022.10:g.51019985G>A , CM000684.1:g.51019985G>A	GRCh37
NC_000022.9:g.49366851G>A	NCBI36
NG_012643.1:g.2112C>T
NG_029213.1:g.6444C>T , LRG_855:g.6444C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000406938.3:c.448-3C>T (CHKB) MANE Select	ENSP00000384400.3:n.448-3C>T
ENST00000406938.2:c.448-3C>T (CHKB)	ENSP00000384400.2:n.448-3C>T
ENST00000463053.1:n.597-3C>T (CHKB)
ENST00000468532.5:n.325-3C>T (CHKB)
ENST00000476289.5:n.721-3C>T (CHKB)
ENST00000479003.5:n.1073-3C>T (CHKB)
ENST00000481673.5:n.898-3C>T (CHKB)
ENST00000484266.5:n.576+693C>T (CHKB)
ENST00000492556.5:n.1218-3C>T (CHKB-CPT1B)
ENST00000492582.5:n.1107-3C>T (CHKB)
NM_005198.4:c.448-3C>T , LRG_855t1:c.448-3C>T (CHKB)	NP_005189.2:n.448-3C>T
NR_027928.2:n.666-3C>T (CHKB-CPT1B)
NM_005198.5:c.448-3C>T (CHKB) MANE Select	NP_005189.2:n.448-3C>T