Canonical Allele Identifier: CA10323767

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs750048050
• ExAC: 22:51019983 C / G
• gnomAD v2: 22-51019983-C-G
• gnomAD v4: 22-50581554-C-G
• MyVariant Identifiers: chr22:g.51019983C>G (hg19) ; chr22:g.50581554C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581554C>G , CM000684.2:g.50581554C>G	GRCh38
NC_000022.10:g.51019983C>G , CM000684.1:g.51019983C>G	GRCh37
NC_000022.9:g.49366849C>G	NCBI36
NG_012643.1:g.2114G>C
NG_029213.1:g.6446G>C , LRG_855:g.6446G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000406938.3:c.448-1G>C (CHKB) MANE Select	ENSP00000384400.3:n.448-1G>C
ENST00000406938.2:c.448-1G>C (CHKB)	ENSP00000384400.2:n.448-1G>C
ENST00000463053.1:n.597-1G>C (CHKB)
ENST00000468532.5:n.325-1G>C (CHKB)
ENST00000476289.5:n.721-1G>C (CHKB)
ENST00000479003.5:n.1073-1G>C (CHKB)
ENST00000481673.5:n.898-1G>C (CHKB)
ENST00000484266.5:n.576+695G>C (CHKB)
ENST00000492556.5:n.1218-1G>C (CHKB-CPT1B)
ENST00000492582.5:n.1107-1G>C (CHKB)
NM_005198.4:c.448-1G>C , LRG_855t1:c.448-1G>C (CHKB)	NP_005189.2:n.448-1G>C
NR_027928.2:n.666-1G>C (CHKB-CPT1B)
NM_005198.5:c.448-1G>C (CHKB) MANE Select	NP_005189.2:n.448-1G>C