Canonical Allele Identifier: CA754073316

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1362153380
• gnomAD v4: 22-50581944-C-T
• MyVariant Identifiers: chr22:g.51020373C>T (hg19) ; chr22:g.50581944C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581944C>T , CM000684.2:g.50581944C>T	GRCh38
NC_000022.10:g.51020373C>T , CM000684.1:g.51020373C>T	GRCh37
NC_000022.9:g.49367239C>T	NCBI36
NG_012643.1:g.1724G>A
NG_029213.1:g.6056G>A , LRG_855:g.6056G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.334-82G>A (CHKB) MANE Select	ENSP00000384400.3:n.334-82G>A
ENST00000406938.2:c.334-82G>A (CHKB)	ENSP00000384400.2:n.334-82G>A
ENST00000463053.1:n.483-82G>A (CHKB)
ENST00000465842.1:n.173-82G>A (CHKB)
ENST00000468532.5:n.211-82G>A (CHKB)
ENST00000476289.5:n.607-82G>A (CHKB)
ENST00000479003.5:n.877G>A (CHKB)
ENST00000481673.5:n.702G>A (CHKB)
ENST00000484266.5:n.576+305G>A (CHKB)
ENST00000492556.5:n.1022G>A (CHKB-CPT1B)
ENST00000492582.5:n.911G>A (CHKB)
NM_005198.4:c.334-82G>A , LRG_855t1:c.334-82G>A (CHKB)	NP_005189.2:n.334-82G>A
NR_027928.2:n.552-82G>A (CHKB-CPT1B)
NM_005198.5:c.334-82G>A (CHKB) MANE Select	NP_005189.2:n.334-82G>A