Canonical Allele Identifier: CA11770333
Gene: HTT HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.3217326C>T
GRCh37 chr4:g.3219053C>T
gnomAD v2:
4:3219053 C / T
gnomAD v3:
4:3217326 C / T
gnomAD v4:
chr4-3217326-C-T
Joint Max Group AF 0.51546133 (AFR)
Genomes Max Group AF 0.51546133 (AFR)
dbSNP:
362277
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3217326C>T , CM000666.2:g.3217326C>T GRCh38
NC_000004.11:g.3219053C>T , CM000666.1:g.3219053C>T GRCh37
NC_000004.10:g.3188851C>T NCBI36
NG_009378.1:g.147652C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355072.11:c.7055-439C>T MANE Select ENSP00000347184.5:n.7055-439C>T
ENST00000355072.10:c.7055-439C>T ENSP00000347184.5:n.7055-439C>T
ENST00000680239.1:c.6797-439C>T ENSP00000506169.1:n.6797-439C>T
ENST00000680360.1:c.*262-439C>T ENSP00000505014.1:n.*262-439C>T
ENST00000680956.1:c.6797-439C>T ENSP00000506029.1:n.6797-439C>T
ENST00000681528.1:c.6887-439C>T ENSP00000506116.1:n.6887-439C>T
ENST00000355072.9:c.7055-439C>T ENSP00000347184.5:n.7055-439C>T
ENST00000510626.5:n.8183-439C>T
NM_002111.7:c.7061-439C>T NP_002102.4:n.7061-439C>T
NM_002111.8:c.7061-439C>T NP_002102.4:n.7061-439C>T
NM_001388492.1:c.7055-439C>T MANE Select NP_001375421.1:n.7055-439C>T
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