Canonical Allele Identifier: CA754073116

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1379045726
• gnomAD v3: 22-50581557-C-T
• gnomAD v4: 22-50581557-C-T
• MyVariant Identifiers: chr22:g.51019986C>T (hg19) ; chr22:g.50581557C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581557C>T , CM000684.2:g.50581557C>T	GRCh38
NC_000022.10:g.51019986C>T , CM000684.1:g.51019986C>T	GRCh37
NC_000022.9:g.49366852C>T	NCBI36
NG_012643.1:g.2111G>A
NG_029213.1:g.6443G>A , LRG_855:g.6443G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.448-4G>A (CHKB) MANE Select	ENSP00000384400.3:n.448-4G>A
ENST00000406938.2:c.448-4G>A (CHKB)	ENSP00000384400.2:n.448-4G>A
ENST00000463053.1:n.597-4G>A (CHKB)
ENST00000468532.5:n.325-4G>A (CHKB)
ENST00000476289.5:n.721-4G>A (CHKB)
ENST00000479003.5:n.1073-4G>A (CHKB)
ENST00000481673.5:n.898-4G>A (CHKB)
ENST00000484266.5:n.576+692G>A (CHKB)
ENST00000492556.5:n.1218-4G>A (CHKB-CPT1B)
ENST00000492582.5:n.1107-4G>A (CHKB)
NM_005198.4:c.448-4G>A , LRG_855t1:c.448-4G>A (CHKB)	NP_005189.2:n.448-4G>A
NR_027928.2:n.666-4G>A (CHKB-CPT1B)
NM_005198.5:c.448-4G>A (CHKB) MANE Select	NP_005189.2:n.448-4G>A