Canonical Allele Identifier: CA640358373

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1200333027
• gnomAD v2: 22-51020969-T-C
• gnomAD v4: 22-50582540-T-C
• MyVariant Identifiers: chr22:g.51020969T>C (hg19) ; chr22:g.50582540T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582540T>C , CM000684.2:g.50582540T>C	GRCh38
NC_000022.10:g.51020969T>C , CM000684.1:g.51020969T>C	GRCh37
NC_000022.9:g.49367835T>C	NCBI36
NG_012643.1:g.1128A>G
NG_029213.1:g.5460A>G , LRG_855:g.5460A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+18A>G (CHKB) MANE Select	ENSP00000384400.3:n.224+18A>G
ENST00000406938.2:c.224+18A>G (CHKB)	ENSP00000384400.2:n.224+18A>G
ENST00000463053.1:n.307-183A>G (CHKB)
ENST00000476289.5:n.315A>G (CHKB)
ENST00000479003.5:n.281A>G (CHKB)
ENST00000481673.5:n.288+18A>G (CHKB)
ENST00000484266.5:n.285A>G (CHKB)
ENST00000492556.5:n.426A>G (CHKB-CPT1B)
ENST00000492582.5:n.315A>G (CHKB)
NM_005198.4:c.224+18A>G , LRG_855t1:c.224+18A>G (CHKB)	NP_005189.2:n.224+18A>G
NR_027928.2:n.442+18A>G (CHKB-CPT1B)
NM_005198.5:c.224+18A>G (CHKB) MANE Select	NP_005189.2:n.224+18A>G