Canonical Allele Identifier: CA2825444
Gene: HTT HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.3224121G>A
GRCh37 chr4:g.3225848G>A
gnomAD v2:
4:3225848 G / A
gnomAD v3:
4:3224121 G / A
gnomAD v4:
chr4-3224121-G-A
Joint Max Group AF 0.00054026 (MID)
Genomes Max Group AF 0.00007299 (SAS)
Exomes Max Group AF 0.00056996 (MID)
ClinVar RCV:
RCV002071352
ClinVar Variation:
1533543
dbSNP:
779366537
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3224121G>A , CM000666.2:g.3224121G>A GRCh38
NC_000004.11:g.3225848G>A , CM000666.1:g.3225848G>A GRCh37
NC_000004.10:g.3195646G>A NCBI36
NG_009378.1:g.154447G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355072.11:c.7755G>A MANE Select ENSP00000347184.5:p.Pro2585=
ENST00000355072.10:c.7755G>A ENSP00000347184.5:p.Pro2585=
ENST00000680239.1:c.7497G>A ENSP00000506169.1:p.Pro2499=
ENST00000680360.1:c.*962G>A ENSP00000505014.1:n.*962G>A
ENST00000680956.1:c.7497G>A ENSP00000506029.1:p.Pro2499=
ENST00000681528.1:c.7587G>A ENSP00000506116.1:p.Pro2529=
ENST00000355072.9:c.7755G>A ENSP00000347184.5:p.Pro2585=
ENST00000510626.5:n.8883G>A
NM_002111.7:c.7761G>A NP_002102.4:p.Pro2587=
NM_002111.8:c.7761G>A NP_002102.4:p.Pro2587=
NM_001388492.1:c.7755G>A MANE Select NP_001375421.1:p.Pro2585=
Search 100 bp 5'
Search 100 bp 3'