Canonical Allele Identifier: CA11632750
Gene: HTT HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.3102841A>G
GRCh37 chr4:g.3104568A>G
gnomAD v2:
4:3104568 A / G
gnomAD v3:
4:3102841 A / G
gnomAD v4:
chr4-3102841-A-G
Joint Max Group AF 0.43765938 (AFR)
Genomes Max Group AF 0.43765938 (AFR)
dbSNP:
2024115
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3102841A>G , CM000666.2:g.3102841A>G GRCh38
NC_000004.11:g.3104568A>G , CM000666.1:g.3104568A>G GRCh37
NC_000004.10:g.3074366A>G NCBI36
NG_009378.1:g.33167A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355072.11:c.469-983A>G MANE Select ENSP00000347184.5:n.469-983A>G
ENST00000355072.10:c.469-983A>G ENSP00000347184.5:n.469-983A>G
ENST00000680239.1:c.211-983A>G ENSP00000506169.1:n.211-983A>G
ENST00000680291.1:n.614-983A>G
ENST00000680360.1:c.211-983A>G ENSP00000505014.1:n.211-983A>G
ENST00000680956.1:c.211-983A>G ENSP00000506029.1:n.211-983A>G
ENST00000681528.1:c.211-983A>G ENSP00000506116.1:n.211-983A>G
ENST00000355072.9:c.469-983A>G ENSP00000347184.5:n.469-983A>G
NM_002111.7:c.475-983A>G NP_002102.4:n.475-983A>G
NM_002111.8:c.475-983A>G NP_002102.4:n.475-983A>G
NM_001388492.1:c.469-983A>G MANE Select NP_001375421.1:n.469-983A>G
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