Canonical Allele Identifier: CA412202923

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50582561-A-T
• MyVariant Identifiers: chr22:g.51020990A>T (hg19) ; chr22:g.50582561A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582561A>T , CM000684.2:g.50582561A>T	GRCh38
NC_000022.10:g.51020990A>T , CM000684.1:g.51020990A>T	GRCh37
NC_000022.9:g.49367856A>T	NCBI36
NG_012643.1:g.1107T>A
NG_029213.1:g.5439T>A , LRG_855:g.5439T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.221T>A (CHKB) MANE Select	ENSP00000384400.3:p.Val74Glu
ENST00000406938.2:c.221T>A (CHKB)	ENSP00000384400.2:p.Val74Glu
ENST00000463053.1:n.307-204T>A (CHKB)
ENST00000476289.5:n.294T>A (CHKB)
ENST00000479003.5:n.260T>A (CHKB)
ENST00000481673.5:n.285T>A (CHKB)
ENST00000484266.5:n.264T>A (CHKB)
ENST00000492556.5:n.405T>A (CHKB-CPT1B)
ENST00000492582.5:n.294T>A (CHKB)
NM_005198.4:c.221T>A , LRG_855t1:c.221T>A (CHKB)	NP_005189.2:p.Val74Glu
NR_027928.2:n.439T>A (CHKB-CPT1B)
NM_005198.5:c.221T>A (CHKB) MANE Select	NP_005189.2:p.Val74Glu