Canonical Allele Identifier: CA2657580130
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

gnomAD v4: 22-50578949-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50578949G>T , CM000684.2:g.50578949G>T GRCh38
NC_000022.10:g.51017378G>T , CM000684.1:g.51017378G>T GRCh37
NC_000022.9:g.49364244G>T NCBI36
NG_012643.1:g.4719C>A
NG_029213.1:g.9051C>A , LRG_855:g.9051C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.2:c.*232C>A (CHKB) ENSP00000384400.2:n.*232C>A
ENST00000452668.1:n.319+87C>A (CHKB-CPT1B)
ENST00000453634.5:c.328+87C>A (CHKB-CPT1B) ENSP00000457031.1:n.328+87C>A
ENST00000492556.5:n.2189+87C>A (CHKB-CPT1B)
NR_027928.2:n.1551+87C>A (CHKB-CPT1B)
Search 100 bp 5'
Search 100 bp 3'