Canonical Allele Identifier: CA11632738
Gene: HTT HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.3056082A>G
GRCh37 chr4:g.3057809A>G
gnomAD v2:
4:3057809 A / G
gnomAD v3:
4:3056082 A / G
gnomAD v4:
chr4-3056082-A-G
Joint Max Group AF 0.71254833 (SAS)
Genomes Max Group AF 0.71254833 (SAS)
dbSNP:
1313770
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3056082A>G , CM000666.2:g.3056082A>G GRCh38
NC_000004.11:g.3057809A>G , CM000666.1:g.3057809A>G GRCh37
NC_000004.10:g.3027607A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000647962.1:n.825-6394A>G
ENST00000649900.1:n.503+13837A>G
ENST00000680239.1:c.5+13837A>G ENSP00000506169.1:n.5+13837A>G
ENST00000680360.1:c.5+13837A>G ENSP00000505014.1:n.5+13837A>G
ENST00000680956.1:c.5+13837A>G ENSP00000506029.1:n.5+13837A>G
ENST00000681528.1:c.5+13837A>G ENSP00000506116.1:n.5+13837A>G
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