Canonical Allele Identifier: CA2410934435
Gene: CHKB-CPT1B HGNC NCBI

Linked Data

dbSNP Id: rs2070597545
gnomAD v4: 22-50578757-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50578757C>T , CM000684.2:g.50578757C>T GRCh38
NC_000022.10:g.51017186C>T , CM000684.1:g.51017186C>T GRCh37
NC_000022.9:g.49364052C>T NCBI36
NG_012643.1:g.4911G>A
NG_029213.1:g.9243G>A , LRG_855:g.9243G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000452668.1:n.320-98G>A
ENST00000453634.5:c.329-98G>A ENSP00000457031.1:n.329-98G>A
ENST00000492556.5:n.2189+279G>A
NR_027928.2:n.1551+279G>A
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