Canonical Allele Identifier: CA640358277

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1401902286
• gnomAD v2: 22-51020649-T-C
• gnomAD v4: 22-50582220-T-C
• MyVariant Identifiers: chr22:g.51020649T>C (hg19) ; chr22:g.50582220T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582220T>C , CM000684.2:g.50582220T>C	GRCh38
NC_000022.10:g.51020649T>C , CM000684.1:g.51020649T>C	GRCh37
NC_000022.9:g.49367515T>C	NCBI36
NG_012643.1:g.1448A>G
NG_029213.1:g.5780A>G , LRG_855:g.5780A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.333+29A>G (CHKB) MANE Select	ENSP00000384400.3:n.333+29A>G
ENST00000406938.2:c.333+29A>G (CHKB)	ENSP00000384400.2:n.333+29A>G
ENST00000463053.1:n.415+29A>G (CHKB)
ENST00000465842.1:n.172+29A>G (CHKB)
ENST00000468532.5:n.210+29A>G (CHKB)
ENST00000476289.5:n.606+29A>G (CHKB)
ENST00000479003.5:n.601A>G (CHKB)
ENST00000481673.5:n.426A>G (CHKB)
ENST00000484266.5:n.576+29A>G (CHKB)
ENST00000492556.5:n.746A>G (CHKB-CPT1B)
ENST00000492582.5:n.635A>G (CHKB)
NM_005198.4:c.333+29A>G , LRG_855t1:c.333+29A>G (CHKB)	NP_005189.2:n.333+29A>G
NR_027928.2:n.551+29A>G (CHKB-CPT1B)
NM_005198.5:c.333+29A>G (CHKB) MANE Select	NP_005189.2:n.333+29A>G