Canonical Allele Identifier: CA2657579892
Gene: CHKB-CPT1B HGNC NCBI

Linked Data

gnomAD v4: 22-50578752-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50578752A>C , CM000684.2:g.50578752A>C GRCh38
NC_000022.10:g.51017181A>C , CM000684.1:g.51017181A>C GRCh37
NC_000022.9:g.49364047A>C NCBI36
NG_012643.1:g.4916T>G
NG_029213.1:g.9248T>G , LRG_855:g.9248T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000452668.1:n.320-93T>G
ENST00000453634.5:c.329-93T>G ENSP00000457031.1:n.329-93T>G
ENST00000492556.5:n.2189+284T>G
NR_027928.2:n.1551+284T>G
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