Canonical Allele Identifier: CA16609105

Gene: CHKB CHKB-CPT1B

Linked Data

• ClinVar Variation Id: 391040
• ClinVar RCV Id: RCV000438353 ; RCV002063576
• dbSNP Id: rs1057523950
• gnomAD v3: 22-50581412-T-A
• gnomAD v4: 22-50581412-T-A
• MyVariant Identifiers: chr22:g.51019841T>A (hg19) ; chr22:g.50581412T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581412T>A , CM000684.2:g.50581412T>A	GRCh38
NC_000022.10:g.51019841T>A , CM000684.1:g.51019841T>A	GRCh37
NC_000022.9:g.49366707T>A	NCBI36
NG_012643.1:g.2256A>T
NG_029213.1:g.6588A>T , LRG_855:g.6588A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.581+8A>T (CHKB) MANE Select	ENSP00000384400.3:n.581+8A>T
ENST00000406938.2:c.581+8A>T (CHKB)	ENSP00000384400.2:n.581+8A>T
ENST00000463053.1:n.730+8A>T (CHKB)
ENST00000468532.5:n.458+8A>T (CHKB)
ENST00000476289.5:n.854+8A>T (CHKB)
ENST00000479003.5:n.1206+8A>T (CHKB)
ENST00000481673.5:n.1031+8A>T (CHKB)
ENST00000484266.5:n.577-752A>T (CHKB)
ENST00000492556.5:n.1351+8A>T (CHKB-CPT1B)
ENST00000492582.5:n.1240+8A>T (CHKB)
NM_005198.4:c.581+8A>T , LRG_855t1:c.581+8A>T (CHKB)	NP_005189.2:n.581+8A>T
NR_027928.2:n.799+8A>T (CHKB-CPT1B)
NM_005198.5:c.581+8A>T (CHKB) MANE Select	NP_005189.2:n.581+8A>T