Canonical Allele Identifier: CA11632775

Gene: HTT

Linked Data

• dbSNP Id: rs82334
• gnomAD v2: 4-3225371-A-C
• gnomAD v3: 4-3223644-A-C
• gnomAD v4: 4-3223644-A-C
• MyVariant Identifiers: chr4:g.3225371A>C (hg19) ; chr4:g.3223644A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3223644A>C , CM000666.2:g.3223644A>C	GRCh38
NC_000004.11:g.3225371A>C , CM000666.1:g.3225371A>C	GRCh37
NC_000004.10:g.3195169A>C	NCBI36
NG_009378.1:g.153970A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355072.11:c.7625+84A>C MANE Select	ENSP00000347184.5:n.7625+84A>C
ENST00000355072.10:c.7625+84A>C	ENSP00000347184.5:n.7625+84A>C
ENST00000680239.1:c.7367+84A>C	ENSP00000506169.1:n.7367+84A>C
ENST00000680360.1:c.*832+84A>C	ENSP00000505014.1:n.*832+84A>C
ENST00000680956.1:c.7367+84A>C	ENSP00000506029.1:n.7367+84A>C
ENST00000681528.1:c.7457+84A>C	ENSP00000506116.1:n.7457+84A>C
ENST00000355072.9:c.7625+84A>C	ENSP00000347184.5:n.7625+84A>C
ENST00000510626.5:n.8753+84A>C
NM_002111.7:c.7631+84A>C	NP_002102.4:n.7631+84A>C
NM_002111.8:c.7631+84A>C	NP_002102.4:n.7631+84A>C
NM_001388492.1:c.7625+84A>C MANE Select	NP_001375421.1:n.7625+84A>C