Canonical Allele Identifier: CA640358335

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1348942456
• gnomAD v2: 22-51020842-C-G
• gnomAD v4: 22-50582413-C-G
• MyVariant Identifiers: chr22:g.51020842C>G (hg19) ; chr22:g.50582413C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582413C>G , CM000684.2:g.50582413C>G	GRCh38
NC_000022.10:g.51020842C>G , CM000684.1:g.51020842C>G	GRCh37
NC_000022.9:g.49367708C>G	NCBI36
NG_012643.1:g.1255G>C
NG_029213.1:g.5587G>C , LRG_855:g.5587G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-56G>C (CHKB) MANE Select	ENSP00000384400.3:n.225-56G>C
ENST00000406938.2:c.225-56G>C (CHKB)	ENSP00000384400.2:n.225-56G>C
ENST00000463053.1:n.307-56G>C (CHKB)
ENST00000465842.1:n.8G>C (CHKB)
ENST00000468532.5:n.46G>C (CHKB)
ENST00000476289.5:n.442G>C (CHKB)
ENST00000479003.5:n.408G>C (CHKB)
ENST00000481673.5:n.289-56G>C (CHKB)
ENST00000484266.5:n.412G>C (CHKB)
ENST00000492556.5:n.553G>C (CHKB-CPT1B)
ENST00000492582.5:n.442G>C (CHKB)
NM_005198.4:c.225-56G>C , LRG_855t1:c.225-56G>C (CHKB)	NP_005189.2:n.225-56G>C
NR_027928.2:n.443-56G>C (CHKB-CPT1B)
NM_005198.5:c.225-56G>C (CHKB) MANE Select	NP_005189.2:n.225-56G>C