Canonical Allele Identifier: CA11799478
Gene: HTT HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.3139683C>T
GRCh37 chr4:g.3141410C>T
gnomAD v2:
4:3141410 C / T
gnomAD v3:
4:3139683 C / T
gnomAD v4:
chr4-3139683-C-T
Joint Max Group AF 0.37624771 (EAS)
Genomes Max Group AF 0.37624771 (EAS)
dbSNP:
363064
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3139683C>T , CM000666.2:g.3139683C>T GRCh38
NC_000004.11:g.3141410C>T , CM000666.1:g.3141410C>T GRCh37
NC_000004.10:g.3111208C>T NCBI36
NG_009378.1:g.70009C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355072.11:c.2799-827C>T MANE Select ENSP00000347184.5:n.2799-827C>T
ENST00000355072.10:c.2799-827C>T ENSP00000347184.5:n.2799-827C>T
ENST00000680239.1:c.2541-827C>T ENSP00000506169.1:n.2541-827C>T
ENST00000680291.1:n.2896-827C>T
ENST00000680360.1:c.2541-827C>T ENSP00000505014.1:n.2541-827C>T
ENST00000680956.1:c.2541-827C>T ENSP00000506029.1:n.2541-827C>T
ENST00000681528.1:c.2541-827C>T ENSP00000506116.1:n.2541-827C>T
ENST00000355072.9:c.2799-827C>T ENSP00000347184.5:n.2799-827C>T
ENST00000510626.5:n.2898-827C>T
NM_002111.7:c.2805-827C>T NP_002102.4:n.2805-827C>T
NM_002111.8:c.2805-827C>T NP_002102.4:n.2805-827C>T
NM_001388492.1:c.2799-827C>T MANE Select NP_001375421.1:n.2799-827C>T
Search 100 bp 5'
Search 100 bp 3'