Canonical Allele Identifier: CA2657579878
Gene: CHKB-CPT1B HGNC NCBI

Linked Data

gnomAD v4: 22-50578739-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50578739G>T , CM000684.2:g.50578739G>T GRCh38
NC_000022.10:g.51017168G>T , CM000684.1:g.51017168G>T GRCh37
NC_000022.9:g.49364034G>T NCBI36
NG_012643.1:g.4929C>A
NG_029213.1:g.9261C>A , LRG_855:g.9261C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000452668.1:n.320-80C>A
ENST00000453634.5:c.329-80C>A ENSP00000457031.1:n.329-80C>A
ENST00000492556.5:n.2189+297C>A
NR_027928.2:n.1551+297C>A
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