Canonical Allele Identifier: CA1058632444
Gene: HTT HGNC NCBI

Linked Data

dbSNP Id: rs1711905037
gnomAD v3: 4-3060540-G-C
gnomAD v4: 4-3060540-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3060540G>C , CM000666.2:g.3060540G>C GRCh38
NC_000004.11:g.3062267G>C , CM000666.1:g.3062267G>C GRCh37
NC_000004.10:g.3032065G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000647962.1:n.825-1936G>C
ENST00000649900.1:n.503+18295G>C
ENST00000680239.1:c.5+18295G>C ENSP00000506169.1:n.5+18295G>C
ENST00000680360.1:c.5+18295G>C ENSP00000505014.1:n.5+18295G>C
ENST00000680956.1:c.5+18295G>C ENSP00000506029.1:n.5+18295G>C
ENST00000681528.1:c.5+18295G>C ENSP00000506116.1:n.5+18295G>C
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