Canonical Allele Identifier: CA2410936394
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

dbSNP Id: rs1348942456

Genomic Alleles

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

Transcript Alleles

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