Canonical Allele Identifier: CA11632775
Gene: HTT HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.3223644A>C
GRCh37 chr4:g.3225371A>C
gnomAD v2:
4:3225371 A / C
gnomAD v3:
4:3223644 A / C
gnomAD v4:
chr4-3223644-A-C
Joint Max Group AF 0.38189922 (EAS)
Genomes Max Group AF 0.38144396 (EAS)
Exomes Max Group AF 0.38034457 (EAS)
dbSNP:
82334
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3223644A>C , CM000666.2:g.3223644A>C GRCh38
NC_000004.11:g.3225371A>C , CM000666.1:g.3225371A>C GRCh37
NC_000004.10:g.3195169A>C NCBI36
NG_009378.1:g.153970A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355072.11:c.7625+84A>C MANE Select ENSP00000347184.5:n.7625+84A>C
ENST00000355072.10:c.7625+84A>C ENSP00000347184.5:n.7625+84A>C
ENST00000680239.1:c.7367+84A>C ENSP00000506169.1:n.7367+84A>C
ENST00000680360.1:c.*832+84A>C ENSP00000505014.1:n.*832+84A>C
ENST00000680956.1:c.7367+84A>C ENSP00000506029.1:n.7367+84A>C
ENST00000681528.1:c.7457+84A>C ENSP00000506116.1:n.7457+84A>C
ENST00000355072.9:c.7625+84A>C ENSP00000347184.5:n.7625+84A>C
ENST00000510626.5:n.8753+84A>C
NM_002111.7:c.7631+84A>C NP_002102.4:n.7631+84A>C
NM_002111.8:c.7631+84A>C NP_002102.4:n.7631+84A>C
NM_001388492.1:c.7625+84A>C MANE Select NP_001375421.1:n.7625+84A>C
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