Canonical Allele Identifier: CA2657579858
Gene: CHKB-CPT1B HGNC NCBI

Linked Data

gnomAD v4: 22-50578727-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50578727G>A , CM000684.2:g.50578727G>A GRCh38
NC_000022.10:g.51017156G>A , CM000684.1:g.51017156G>A GRCh37
NC_000022.9:g.49364022G>A NCBI36
NG_012643.1:g.4941C>T
NG_029213.1:g.9273C>T , LRG_855:g.9273C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000452668.1:n.320-68C>T
ENST00000453634.5:c.329-68C>T ENSP00000457031.1:n.329-68C>T
ENST00000492556.5:n.2189+309C>T
NR_027928.2:n.1551+309C>T
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