Canonical Allele Identifier: CA16000025
Gene: CHKB-CPT1B HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.50578924T>C
GRCh37 chr22:g.51017353T>C
gnomAD v2:
22:51017353 T / C
gnomAD v3:
22:50578924 T / C
gnomAD v4:
chr22-50578924-T-C
Joint Max Group AF 0.22718644 (EAS)
Genomes Max Group AF 0.24368174 (EAS)
Exomes Max Group AF 0.22234649 (EAS)
ClinVar RCV:
RCV001612506
ClinVar Variation:
1231742
dbSNP:
5770917
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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:c.328+112A>G ENSP00000457031.1:n.328+112A>G
ENST00000492556.5:n.2189+112A>G
NR_027928.2:n.1551+112A>G
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