Canonical Allele Identifier: CA2824092
Gene: HTT HGNC NCBI
COSMIC:
COSM4986549 (not active)
MyVariant.info:
GRCh38 chr4:g.3146926T>G
GRCh37 chr4:g.3148653T>G
Revel Score:
ENST00000355072 (MANE Select) 0.130
gnomAD v2:
4:3148653 T / G
gnomAD v3:
4:3146926 T / G
gnomAD v4:
chr4-3146926-T-G
Joint Max Group AF 0.05957753 (SAS)
Genomes Max Group AF 0.05944036 (SAS)
Exomes Max Group AF 0.05929479 (SAS)
ClinVar RCV:
RCV002151631
ClinVar Variation:
1651223
dbSNP:
1143646
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3146926T>G , CM000666.2:g.3146926T>G GRCh38
NC_000004.11:g.3148653T>G , CM000666.1:g.3148653T>G GRCh37
NC_000004.10:g.3118451T>G NCBI36
NG_009378.1:g.77252T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355072.11:c.3273T>G MANE Select ENSP00000347184.5:p.Ile1091Met
ENST00000355072.10:c.3273T>G ENSP00000347184.5:p.Ile1091Met
ENST00000680239.1:c.3015T>G ENSP00000506169.1:p.Ile1005Met
ENST00000680291.1:n.3370T>G
ENST00000680360.1:c.3015T>G ENSP00000505014.1:p.Ile1005Met
ENST00000680956.1:c.3015T>G ENSP00000506029.1:p.Ile1005Met
ENST00000681528.1:c.3015T>G ENSP00000506116.1:p.Ile1005Met
ENST00000355072.9:c.3273T>G ENSP00000347184.5:p.Ile1091Met
ENST00000510626.5:n.3372T>G
NM_002111.7:c.3279T>G NP_002102.4:p.Ile1093Met
NM_002111.8:c.3279T>G NP_002102.4:p.Ile1093Met
NM_001388492.1:c.3273T>G MANE Select NP_001375421.1:p.Ile1091Met
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