Canonical Allele Identifier: CA15330729
Gene: HTT HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.3158423G>A
GRCh37 chr4:g.3160150G>A
gnomAD v2:
4:3160150 G / A
gnomAD v3:
4:3158423 G / A
gnomAD v4:
chr4-3158423-G-A
Joint Max Group AF 0.56946264 (AFR)
Genomes Max Group AF 0.56946264 (AFR)
dbSNP:
4690073
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3158423G>A , CM000666.2:g.3158423G>A GRCh38
NC_000004.11:g.3160150G>A , CM000666.1:g.3160150G>A GRCh37
NC_000004.10:g.3129948G>A NCBI36
NG_009378.1:g.88749G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355072.11:c.3753+1224G>A MANE Select ENSP00000347184.5:n.3753+1224G>A
ENST00000355072.10:c.3753+1224G>A ENSP00000347184.5:n.3753+1224G>A
ENST00000680239.1:c.3495+1224G>A ENSP00000506169.1:n.3495+1224G>A
ENST00000680291.1:n.3850+1224G>A
ENST00000680360.1:c.3495+1224G>A ENSP00000505014.1:n.3495+1224G>A
ENST00000680956.1:c.3495+1224G>A ENSP00000506029.1:n.3495+1224G>A
ENST00000681528.1:c.3495+1224G>A ENSP00000506116.1:n.3495+1224G>A
ENST00000355072.9:c.3753+1224G>A ENSP00000347184.5:n.3753+1224G>A
ENST00000510626.5:n.3852+1224G>A
NM_002111.7:c.3759+1224G>A NP_002102.4:n.3759+1224G>A
NM_002111.8:c.3759+1224G>A NP_002102.4:n.3759+1224G>A
NM_001388492.1:c.3753+1224G>A MANE Select NP_001375421.1:n.3753+1224G>A
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