Canonical Allele Identifier: CA8101931
Community Standard Title: NM_001374675.1(HSF4):c.680C>A (p.Thr227Asn)
Gene: HSF4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67167173C>A , CM000678.2:g.67167173C>A GRCh38
NC_000016.9:g.67201076C>A , CM000678.1:g.67201076C>A GRCh37
NC_000016.8:g.65758577C>A NCBI36
NG_009294.1:g.8789C>A
NG_029566.1:g.1672C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001374675.1:c.680C>A MANE Select NP_001361604.1:p.Thr227Asn
ENST00000521374.6:c.680C>A MANE Select ENSP00000430947.2:p.Thr227Asn
NM_001040667.2:c.680C>A NP_001035757.1:p.Thr227Asn
NM_001040667.3:c.680C>A NP_001035757.1:p.Thr227Asn
NM_001374674.1:c.680C>A NP_001361603.1:p.Thr227Asn
NM_001538.3:c.680C>A NP_001529.2:p.Thr227Asn
NM_001538.4:c.680C>A NP_001529.2:p.Thr227Asn
ENST00000434833.6:c.680C>A ENSP00000403219.2:p.Thr227Asn
ENST00000517680.5:n.300C>A
ENST00000517685.5:c.680C>A ENSP00000428978.1:p.Thr227Asn
ENST00000517729.5:c.491C>A ENSP00000430299.1:p.Thr164Asn
ENST00000517750.5:c.166-29C>A
ENST00000517867.1:n.182C>A
ENST00000517867.2:n.963C>A
ENST00000519105.5:n.178C>A
ENST00000519224.5:c.269C>A
ENST00000519601.5:c.3C>A
ENST00000520528.2:c.54C>A
ENST00000521314.5:c.*427C>A ENSP00000429580.1:n.*427C>A
ENST00000521374.5:c.680C>A ENSP00000430947.1:p.Thr227Asn
ENST00000521624.5:c.680C>A ENSP00000428161.1:p.Thr227Asn
ENST00000522027.5:n.258C>A
ENST00000522295.5:c.*36C>A ENSP00000427832.1:n.*36C>A
ENST00000522459.5:n.239C>A
ENST00000522870.5:n.1148C>A
ENST00000523077.2:n.1179C>A
ENST00000523562.5:c.680C>A ENSP00000430631.1:p.Thr227Asn
ENST00000584272.5:c.680C>A ENSP00000463706.1:p.Thr227Asn
ENST00000683295.1:n.288C>A
ENST00000684701.1:n.404C>A