Canonical Allele Identifier: CA2824453
Gene: HTT HGNC NCBI
COSMIC:
COSM4003063 (not active)
MyVariant.info:
GRCh38 chr4:g.3178294T>C
GRCh37 chr4:g.3180021T>C
gnomAD v2:
4:3180021 T / C
gnomAD v3:
4:3178294 T / C
gnomAD v4:
chr4-3178294-T-C
Joint Max Group AF 0.67775404 (AFR)
Genomes Max Group AF 0.67380118 (AFR)
Exomes Max Group AF 0.67811992 (AFR)
ClinVar RCV:
RCV002129688
ClinVar Variation:
1598953
dbSNP:
363096
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3178294T>C , CM000666.2:g.3178294T>C GRCh38
NC_000004.11:g.3180021T>C , CM000666.1:g.3180021T>C GRCh37
NC_000004.10:g.3149819T>C NCBI36
NG_009378.1:g.108620T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355072.11:c.4464-4T>C MANE Select ENSP00000347184.5:n.4464-4T>C
ENST00000355072.10:c.4464-4T>C ENSP00000347184.5:n.4464-4T>C
ENST00000680239.1:c.4206-4T>C ENSP00000506169.1:n.4206-4T>C
ENST00000680291.1:n.4561-4T>C
ENST00000680360.1:c.4206-4T>C ENSP00000505014.1:n.4206-4T>C
ENST00000680956.1:c.4206-4T>C ENSP00000506029.1:n.4206-4T>C
ENST00000681528.1:c.4206-4T>C ENSP00000506116.1:n.4206-4T>C
ENST00000355072.9:c.4464-4T>C ENSP00000347184.5:n.4464-4T>C
ENST00000510626.5:n.4563-4T>C
NM_002111.7:c.4470-4T>C NP_002102.4:n.4470-4T>C
NM_002111.8:c.4470-4T>C NP_002102.4:n.4470-4T>C
NM_001388492.1:c.4464-4T>C MANE Select NP_001375421.1:n.4464-4T>C
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