Canonical Allele Identifier: CA91423085
Gene: HTT HGNC NCBI

Linked Data

dbSNP Id: rs183713316
gnomAD v2: 4-3062241-C-T
gnomAD v3: 4-3060514-C-T
gnomAD v4: 4-3060514-C-T
MyVariant Identifiers: chr4:g.3062241C>T (hg19) chr4:g.3060514C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3060514C>T , CM000666.2:g.3060514C>T GRCh38
NC_000004.11:g.3062241C>T , CM000666.1:g.3062241C>T GRCh37
NC_000004.10:g.3032039C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000647962.1:n.825-1962C>T
ENST00000649900.1:n.503+18269C>T
ENST00000680239.1:c.5+18269C>T ENSP00000506169.1:n.5+18269C>T
ENST00000680360.1:c.5+18269C>T ENSP00000505014.1:n.5+18269C>T
ENST00000680956.1:c.5+18269C>T ENSP00000506029.1:n.5+18269C>T
ENST00000681528.1:c.5+18269C>T ENSP00000506116.1:n.5+18269C>T
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