Canonical Allele Identifier: CA248405

Gene: HTT

Linked Data

• ClinVar Variation Id: 156708
• ClinVar RCV Id: RCV000190286
• dbSNP Id: rs587777899
• ExAC: 4:3076656 A / C
• gnomAD v2: 4-3076656-A-C
• gnomAD v3: 4-3074929-A-C
• gnomAD v4: 4-3074929-A-C
• COSMIC: COSM4987384
• MyVariant Identifiers: chr4:g.3076656A>C (hg19) ; chr4:g.3076656_3076657delinsCG (hg19) ; chr4:g.3076656_3076660delinsCGCAG (hg19) ; chr4:g.3076656_3076666delinsCGCAGCAACAG (hg19) ; chr4:g.3074929A>C (hg38) ; chr4:g.3074929_3074933delinsCGCAG (hg38) ; chr4:g.3074929_3074939delinsCGCAGCAACAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3074929A>C , CM000666.2:g.3074929A>C	GRCh38
NC_000004.11:g.3076656A>C , CM000666.1:g.3076656A>C	GRCh37
NC_000004.10:g.3046454A>C	NCBI36
NG_009378.1:g.5255A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355072.11:c.104A>C MANE Select	ENSP00000347184.5:p.Gln35Pro
ENST00000355072.10:c.104A>C	ENSP00000347184.5:p.Gln35Pro
ENST00000649900.1:n.504-12010A>C
ENST00000680239.1:c.6-12010A>C	ENSP00000506169.1:n.6-12010A>C
ENST00000680291.1:n.249A>C
ENST00000680360.1:c.6-12010A>C	ENSP00000505014.1:n.6-12010A>C
ENST00000680956.1:c.6-12010A>C	ENSP00000506029.1:n.6-12010A>C
ENST00000681528.1:c.6-12010A>C	ENSP00000506116.1:n.6-12010A>C
ENST00000355072.9:c.104A>C	ENSP00000347184.5:p.Gln35Pro
NM_002111.7:c.104A>C	NP_002102.4:p.Gln35Pro
NM_002111.8:c.104A>C	NP_002102.4:p.Gln35Pro
NM_001388492.1:c.104A>C MANE Select	NP_001375421.1:p.Gln35Pro