Canonical Allele Identifier: CA91423113
Gene: HTT HGNC NCBI

Linked Data

dbSNP Id: rs138007554
gnomAD v2: 4-3062276-G-A
gnomAD v3: 4-3060549-G-A
gnomAD v4: 4-3060549-G-A
MyVariant Identifiers: chr4:g.3062276G>A (hg19) chr4:g.3060549G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3060549G>A , CM000666.2:g.3060549G>A GRCh38
NC_000004.11:g.3062276G>A , CM000666.1:g.3062276G>A GRCh37
NC_000004.10:g.3032074G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000647962.1:n.825-1927G>A
ENST00000649900.1:n.503+18304G>A
ENST00000680239.1:c.5+18304G>A ENSP00000506169.1:n.5+18304G>A
ENST00000680360.1:c.5+18304G>A ENSP00000505014.1:n.5+18304G>A
ENST00000680956.1:c.5+18304G>A ENSP00000506029.1:n.5+18304G>A
ENST00000681528.1:c.5+18304G>A ENSP00000506116.1:n.5+18304G>A
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