Canonical Allele Identifier: CA380039725
Gene: CAT HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.34453862G>T
GRCh37 chr11:g.34475409G>T
Revel Score:
ENST00000241052 (MANE Select) 0.909
gnomAD v2:
11:34475409 G / T
gnomAD v3:
11:34453862 G / T
gnomAD v4:
chr11-34453862-G-T
Joint Max Group AF 0.000058 (MID)
Exomes Max Group AF 0.00006094 (MID)
ClinVar Allele:
2449656
ClinVar RCV:
RCV004268568
ClinVar Variation:
2473522
dbSNP:
1395002884
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34453862G>T , CM000673.2:g.34453862G>T GRCh38
NC_000011.9:g.34475409G>T , CM000673.1:g.34475409G>T GRCh37
NC_000011.8:g.34431985G>T NCBI36
NG_013339.1:g.19938G>T
NG_013339.2:g.19938G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000241052.5:c.647G>T MANE Select ENSP00000241052.4:p.Gly216Val
ENST00000528104.2:n.17G>T
ENST00000650153.1:c.561G>T
ENST00000241052.4:c.647G>T ENSP00000241052.4:p.Gly216Val
NM_001752.3:c.647G>T NP_001743.1:p.Gly216Val
NM_001752.4:c.647G>T MANE Select NP_001743.1:p.Gly216Val
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