Canonical Allele Identifier: CA8101918
Community Standard Title: NM_001374675.1(HSF4):c.636G>T (p.Met212Ile)
Gene: HSF4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67167129G>T , CM000678.2:g.67167129G>T GRCh38
NC_000016.9:g.67201032G>T , CM000678.1:g.67201032G>T GRCh37
NC_000016.8:g.65758533G>T NCBI36
NG_009294.1:g.8745G>T
NG_029566.1:g.1628G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001374675.1:c.636G>T MANE Select NP_001361604.1:p.Met212Ile
ENST00000521374.6:c.636G>T MANE Select ENSP00000430947.2:p.Met212Ile
NM_001040667.2:c.636G>T NP_001035757.1:p.Met212Ile
NM_001040667.3:c.636G>T NP_001035757.1:p.Met212Ile
NM_001374674.1:c.636G>T NP_001361603.1:p.Met212Ile
NM_001538.3:c.636G>T NP_001529.2:p.Met212Ile
NM_001538.4:c.636G>T NP_001529.2:p.Met212Ile
ENST00000434833.6:c.636G>T ENSP00000403219.2:p.Met212Ile
ENST00000517680.5:n.256G>T
ENST00000517685.5:c.636G>T ENSP00000428978.1:p.Met212Ile
ENST00000517729.5:c.447G>T ENSP00000430299.1:p.Met149Ile
ENST00000517750.5:c.166-73G>T
ENST00000517867.1:n.138G>T
ENST00000517867.2:n.919G>T
ENST00000519105.5:n.134G>T
ENST00000519224.5:c.225G>T
ENST00000520528.2:c.10G>T
ENST00000521314.5:c.*383G>T ENSP00000429580.1:n.*383G>T
ENST00000521374.5:c.636G>T ENSP00000430947.1:p.Met212Ile
ENST00000521624.5:c.636G>T ENSP00000428161.1:p.Met212Ile
ENST00000522027.5:n.214G>T
ENST00000522295.5:c.577G>T ENSP00000427832.1:p.Ala193Ser
ENST00000522459.5:n.195G>T
ENST00000522870.5:n.1104G>T
ENST00000523077.2:n.1135G>T
ENST00000523562.5:c.636G>T ENSP00000430631.1:p.Met212Ile
ENST00000584272.5:c.636G>T ENSP00000463706.1:p.Met212Ile
ENST00000683295.1:n.244G>T
ENST00000684701.1:n.360G>T