Canonical Allele Identifier: CA11844094
Gene: HTT HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.3240118C>T
GRCh37 chr4:g.3241845C>T
gnomAD v2:
4:3241845 C / T
gnomAD v3:
4:3240118 C / T
gnomAD v4:
chr4-3240118-C-T
Joint Max Group AF 0.11819501 (AMR)
Genomes Max Group AF 0.09101081 (AMR)
Exomes Max Group AF 0.12868823 (AMR)
dbSNP:
362307
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3240118C>T , CM000666.2:g.3240118C>T GRCh38
NC_000004.11:g.3241845C>T , CM000666.1:g.3241845C>T GRCh37
NC_000004.10:g.3211643C>T NCBI36
NG_009378.1:g.170444C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355072.11:c.*59C>T MANE Select ENSP00000347184.5:n.*59C>T
ENST00000355072.10:c.*59C>T ENSP00000347184.5:n.*59C>T
ENST00000680239.1:c.*505C>T ENSP00000506169.1:n.*505C>T
ENST00000680360.1:c.*2695C>T ENSP00000505014.1:n.*2695C>T
ENST00000680956.1:c.*59C>T ENSP00000506029.1:n.*59C>T
ENST00000681528.1:c.*59C>T ENSP00000506116.1:n.*59C>T
ENST00000355072.9:c.*59C>T ENSP00000347184.5:n.*59C>T
ENST00000510626.5:n.10616C>T
NM_002111.7:c.*59C>T NP_002102.4:n.*59C>T
NM_002111.8:c.*59C>T NP_002102.4:n.*59C>T
NM_001388492.1:c.*59C>T MANE Select NP_001375421.1:n.*59C>T
Search 100 bp 5'
Search 100 bp 3'