Canonical Allele Identifier: CA16000025
Gene: CHKB-CPT1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1231742
ClinVar RCV Id: RCV001612506
dbSNP Id: rs5770917

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50578924T>C , CM000684.2:g.50578924T>C GRCh38
NC_000022.10:g.51017353T>C , CM000684.1:g.51017353T>C GRCh37
NC_000022.9:g.49364219T>C NCBI36
NG_012643.1:g.4744A>G
NG_029213.1:g.9076A>G , LRG_855:g.9076A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000452668.1:n.319+112A>G
ENST00000453634.5:n.328+112A>G ENSP00000457031.1:n.328+112A>G
ENST00000492556.5:n.2189+112A>G
NR_027928.2:n.1551+112A>G