Canonical Allele Identifier: CA11632743
Gene: HTT HGNC NCBI

Linked Data

dbSNP Id: rs2857936
gnomAD v2: 4-3062310-T-C
gnomAD v3: 4-3060583-T-C
gnomAD v4: 4-3060583-T-C
MyVariant Identifiers: chr4:g.3062310T>C (hg19) chr4:g.3060583T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3060583T>C , CM000666.2:g.3060583T>C GRCh38
NC_000004.11:g.3062310T>C , CM000666.1:g.3062310T>C GRCh37
NC_000004.10:g.3032108T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000647962.1:n.825-1893T>C
ENST00000649900.1:n.503+18338T>C
ENST00000680239.1:c.5+18338T>C ENSP00000506169.1:n.5+18338T>C
ENST00000680360.1:c.5+18338T>C ENSP00000505014.1:n.5+18338T>C
ENST00000680956.1:c.5+18338T>C ENSP00000506029.1:n.5+18338T>C
ENST00000681528.1:c.5+18338T>C ENSP00000506116.1:n.5+18338T>C
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