Canonical Allele Identifier: CA5944630
Gene: CAT HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.34468358A>C
GRCh37 chr11:g.34489905A>C
Revel Score:
ENST00000241052 (MANE Select) 0.681
gnomAD v2:
11:34489905 A / C
gnomAD v3:
11:34468358 A / C
gnomAD v4:
chr11-34468358-A-C
Joint Max Group AF 0.00021963 (AFR)
Genomes Max Group AF 0.00016622 (AFR)
Exomes Max Group AF 0.00020614 (AFR)
ClinVar RCV:
RCV004219751
ClinVar Variation:
2384890
dbSNP:
370234500
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34468358A>C , CM000673.2:g.34468358A>C GRCh38
NC_000011.9:g.34489905A>C , CM000673.1:g.34489905A>C GRCh37
NC_000011.8:g.34446481A>C NCBI36
NG_013339.1:g.34434A>C
NG_013339.2:g.34434A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000241052.5:c.1397A>C MANE Select ENSP00000241052.4:p.His466Pro
ENST00000525707.2:n.196A>C
ENST00000241052.4:c.1397A>C ENSP00000241052.4:p.His466Pro
ENST00000525707.1:n.389A>C
NM_001752.3:c.1397A>C NP_001743.1:p.His466Pro
NM_001752.4:c.1397A>C MANE Select NP_001743.1:p.His466Pro
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