Canonical Allele Identifier: CA2657584524
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

gnomAD v4: 22-50582455-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582455G>C , CM000684.2:g.50582455G>C GRCh38
NC_000022.10:g.51020884G>C , CM000684.1:g.51020884G>C GRCh37
NC_000022.9:g.49367750G>C NCBI36
NG_012643.1:g.1213C>G
NG_029213.1:g.5545C>G , LRG_855:g.5545C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.225-98C>G (CHKB) MANE Select ENSP00000384400.3:n.225-98C>G
ENST00000406938.2:c.225-98C>G (CHKB) ENSP00000384400.2:n.225-98C>G
ENST00000463053.1:n.307-98C>G (CHKB)
ENST00000468532.5:n.4C>G (CHKB)
ENST00000476289.5:n.400C>G (CHKB)
ENST00000479003.5:n.366C>G (CHKB)
ENST00000481673.5:n.289-98C>G (CHKB)
ENST00000484266.5:n.370C>G (CHKB)
ENST00000492556.5:n.511C>G (CHKB-CPT1B)
ENST00000492582.5:n.400C>G (CHKB)
NM_005198.4:c.225-98C>G , LRG_855t1:c.225-98C>G (CHKB) NP_005189.2:n.225-98C>G
NR_027928.2:n.443-98C>G (CHKB-CPT1B)
NM_005198.5:c.225-98C>G (CHKB) MANE Select NP_005189.2:n.225-98C>G
Search 100 bp 5'
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