Canonical Allele Identifier: CA8102053
Community Standard Title: NM_001374675.1(HSF4):c.991G>A (p.Ala331Thr)
Gene: HSF4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67167856G>A , CM000678.2:g.67167856G>A GRCh38
NC_000016.9:g.67201759G>A , CM000678.1:g.67201759G>A GRCh37
NC_000016.8:g.65759260G>A NCBI36
NG_009294.1:g.9472G>A
NG_029566.1:g.2355G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001374675.1:c.991G>A MANE Select NP_001361604.1:p.Ala331Thr
ENST00000521374.6:c.991G>A MANE Select ENSP00000430947.2:p.Ala331Thr
NM_001040667.2:c.991G>A NP_001035757.1:p.Ala331Thr
NM_001040667.3:c.991G>A NP_001035757.1:p.Ala331Thr
NM_001374674.1:c.901G>A NP_001361603.1:p.Ala301Thr
NM_001538.3:c.901G>A NP_001529.2:p.Ala301Thr
NM_001538.4:c.901G>A NP_001529.2:p.Ala301Thr
ENST00000434833.6:c.887G>A ENSP00000403219.2:p.Gly296Asp
ENST00000517685.5:c.854+257G>A ENSP00000428978.1:n.854+257G>A
ENST00000517750.5:c.344G>A
ENST00000517867.2:n.1422G>A
ENST00000519224.5:c.576G>A
ENST00000519601.5:c.185G>A
ENST00000520304.5:c.18G>A
ENST00000520528.1:c.181G>A
ENST00000520528.2:c.361G>A
ENST00000520833.5:n.193G>A
ENST00000521314.5:c.*738G>A ENSP00000429580.1:n.*738G>A
ENST00000521374.5:c.991G>A ENSP00000430947.1:p.Ala331Thr
ENST00000521624.5:c.762G>A ENSP00000428161.1:p.Arg254=
ENST00000522295.5:c.*243G>A ENSP00000427832.1:n.*243G>A
ENST00000522870.5:n.1455G>A
ENST00000523077.2:n.1386G>A
ENST00000523562.5:c.887G>A ENSP00000430631.1:p.Gly296Asp
ENST00000584272.5:c.901G>A ENSP00000463706.1:p.Ala301Thr
ENST00000682677.1:n.196G>A
ENST00000683295.1:n.599G>A
ENST00000684701.1:n.611G>A