Canonical Allele Identifier: CA2825672
Gene: HTT HGNC NCBI
COSMIC:
COSM447795 (not active)
MyVariant.info:
GRCh38 chr4:g.3233253G>A
GRCh37 chr4:g.3234980G>A
Revel Score:
ENST00000355072 (MANE Select) 0.069
gnomAD v2:
4:3234980 G / A
gnomAD v3:
4:3233253 G / A
gnomAD v4:
chr4-3233253-G-A
Joint Max Group AF 0.34138414 (EAS)
Genomes Max Group AF 0.34437272 (EAS)
Exomes Max Group AF 0.33953954 (EAS)
ClinVar RCV:
RCV002092237
ClinVar Variation:
1531045
dbSNP:
362272
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3233253G>A , CM000666.2:g.3233253G>A GRCh38
NC_000004.11:g.3234980G>A , CM000666.1:g.3234980G>A GRCh37
NC_000004.10:g.3204778G>A NCBI36
NG_009378.1:g.163579G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355072.11:c.8356G>A MANE Select ENSP00000347184.5:p.Val2786Ile
ENST00000355072.10:c.8356G>A ENSP00000347184.5:p.Val2786Ile
ENST00000680239.1:c.8098G>A ENSP00000506169.1:p.Val2700Ile
ENST00000680360.1:c.*1563G>A ENSP00000505014.1:n.*1563G>A
ENST00000680956.1:c.8098G>A ENSP00000506029.1:p.Val2700Ile
ENST00000681528.1:c.8188G>A ENSP00000506116.1:p.Val2730Ile
ENST00000355072.9:c.8356G>A ENSP00000347184.5:p.Val2786Ile
ENST00000510626.5:n.9484G>A
ENST00000513806.1:n.320-2031G>A
NM_002111.7:c.8362G>A NP_002102.4:p.Val2788Ile
NM_002111.8:c.8362G>A NP_002102.4:p.Val2788Ile
NM_001388492.1:c.8356G>A MANE Select NP_001375421.1:p.Val2786Ile
Search 100 bp 5'
Search 100 bp 3'