Canonical Allele Identifier: CA11632745
Gene: HTT HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.3078446G>A
GRCh37 chr4:g.3080173G>A
gnomAD v2:
4:3080173 G / A
gnomAD v3:
4:3078446 G / A
gnomAD v4:
chr4-3078446-G-A
Joint Max Group AF 0.45957107 (AFR)
Genomes Max Group AF 0.45957107 (AFR)
dbSNP:
3856973
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3078446G>A , CM000666.2:g.3078446G>A GRCh38
NC_000004.11:g.3080173G>A , CM000666.1:g.3080173G>A GRCh37
NC_000004.10:g.3049971G>A NCBI36
NG_009378.1:g.8772G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355072.11:c.263+3358G>A MANE Select ENSP00000347184.5:n.263+3358G>A
ENST00000355072.10:c.263+3358G>A ENSP00000347184.5:n.263+3358G>A
ENST00000649900.1:n.504-8493G>A
ENST00000680239.1:c.6-8493G>A ENSP00000506169.1:n.6-8493G>A
ENST00000680291.1:n.408+3358G>A
ENST00000680360.1:c.6-8493G>A ENSP00000505014.1:n.6-8493G>A
ENST00000680956.1:c.6-8493G>A ENSP00000506029.1:n.6-8493G>A
ENST00000681528.1:c.6-8493G>A ENSP00000506116.1:n.6-8493G>A
ENST00000355072.9:c.263+3358G>A ENSP00000347184.5:n.263+3358G>A
NM_002111.7:c.269+3358G>A NP_002102.4:n.269+3358G>A
NM_002111.8:c.269+3358G>A NP_002102.4:n.269+3358G>A
NM_001388492.1:c.263+3358G>A MANE Select NP_001375421.1:n.263+3358G>A
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