Canonical Allele Identifier: CA2657580026
Gene: CHKB-CPT1B HGNC NCBI

Linked Data

gnomAD v4: 22-50578856-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50578856G>T , CM000684.2:g.50578856G>T GRCh38
NC_000022.10:g.51017285G>T , CM000684.1:g.51017285G>T GRCh37
NC_000022.9:g.49364151G>T NCBI36
NG_012643.1:g.4812C>A
NG_029213.1:g.9144C>A , LRG_855:g.9144C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000452668.1:n.319+180C>A
ENST00000453634.5:c.328+180C>A ENSP00000457031.1:n.328+180C>A
ENST00000492556.5:n.2189+180C>A
NR_027928.2:n.1551+180C>A
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