Canonical Allele Identifier: CA115889
Gene: CTH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.70415987C>T
GRCh37 chr1:g.70881670C>T
Revel Score:
ENST00000411986 0.931
ENST00000370938 (MANE Select) 0.931
ENST00000346806 0.931
gnomAD v2:
1:70881670 C / T
gnomAD v3:
1:70415987 C / T
gnomAD v4:
chr1-70415987-C-T
Joint Max Group AF 0.00928247 (NFE)
Genomes Max Group AF 0.01332444 (AMR)
Exomes Max Group AF 0.00928037 (NFE)
ClinVar RCV:
RCV000003073
RCV000727631
ClinVar Variation:
2939
dbSNP:
28941785
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.70415987C>T , CM000663.2:g.70415987C>T GRCh38
NC_000001.10:g.70881670C>T , CM000663.1:g.70881670C>T GRCh37
NC_000001.9:g.70654258C>T NCBI36
NG_008041.1:g.9716C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370938.8:c.200C>T MANE Select ENSP00000359976.3:p.Thr67Ile
ENST00000346806.2:c.200C>T ENSP00000311554.2:p.Thr67Ile
ENST00000370938.7:c.200C>T ENSP00000359976.3:p.Thr67Ile
ENST00000411986.6:c.200C>T ENSP00000413407.2:p.Thr67Ile
ENST00000464926.1:n.344C>T
NM_001190463.1:c.200C>T NP_001177392.1:p.Thr67Ile
NM_001902.5:c.200C>T NP_001893.2:p.Thr67Ile
NM_153742.4:c.200C>T NP_714964.2:p.Thr67Ile
XM_005270509.2:c.-128C>T XP_005270566.1:n.-128C>T
XM_005270509.3:c.-128C>T XP_005270566.1:n.-128C>T
NM_001902.6:c.200C>T MANE Select NP_001893.2:p.Thr67Ile
NM_001190463.2:c.200C>T NP_001177392.1:p.Thr67Ile
NM_153742.5:c.200C>T NP_714964.2:p.Thr67Ile
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