Canonical Allele Identifier: CA2657580129
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

gnomAD v4: 22-50578949-G-A
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Genomic Alleles

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

Transcript Alleles

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