Canonical Allele Identifier: CA754073353

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1216295304
• gnomAD v3: 22-50582095-T-A
• gnomAD v4: 22-50582095-T-A
• MyVariant Identifiers: chr22:g.51020524T>A (hg19) ; chr22:g.50582095T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582095T>A , CM000684.2:g.50582095T>A	GRCh38
NC_000022.10:g.51020524T>A , CM000684.1:g.51020524T>A	GRCh37
NC_000022.9:g.49367390T>A	NCBI36
NG_012643.1:g.1573A>T
NG_029213.1:g.5905A>T , LRG_855:g.5905A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.333+154A>T (CHKB) MANE Select	ENSP00000384400.3:n.333+154A>T
ENST00000406938.2:c.333+154A>T (CHKB)	ENSP00000384400.2:n.333+154A>T
ENST00000463053.1:n.416A>T (CHKB)
ENST00000465842.1:n.172+154A>T (CHKB)
ENST00000468532.5:n.210+154A>T (CHKB)
ENST00000476289.5:n.606+154A>T (CHKB)
ENST00000479003.5:n.726A>T (CHKB)
ENST00000481673.5:n.551A>T (CHKB)
ENST00000484266.5:n.576+154A>T (CHKB)
ENST00000492556.5:n.871A>T (CHKB-CPT1B)
ENST00000492582.5:n.760A>T (CHKB)
NM_005198.4:c.333+154A>T , LRG_855t1:c.333+154A>T (CHKB)	NP_005189.2:n.333+154A>T
NR_027928.2:n.551+154A>T (CHKB-CPT1B)
NM_005198.5:c.333+154A>T (CHKB) MANE Select	NP_005189.2:n.333+154A>T