Canonical Allele Identifier: CA793764473

Gene: HTT

Linked Data

• dbSNP Id: rs1271802260
• MyVariant Identifiers: chr4:g.3062363C>A (hg19) ; chr4:g.3060636C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3060636C>A , CM000666.2:g.3060636C>A	GRCh38
NC_000004.11:g.3062363C>A , CM000666.1:g.3062363C>A	GRCh37
NC_000004.10:g.3032161C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647962.1:n.825-1840C>A
ENST00000649900.1:n.503+18391C>A
ENST00000680239.1:c.5+18391C>A	ENSP00000506169.1:n.5+18391C>A
ENST00000680360.1:c.5+18391C>A	ENSP00000505014.1:n.5+18391C>A
ENST00000680956.1:c.5+18391C>A	ENSP00000506029.1:n.5+18391C>A
ENST00000681528.1:c.5+18391C>A	ENSP00000506116.1:n.5+18391C>A