Canonical Allele Identifier: CA8101822

Gene: HSF4

Linked Data

• ClinVar Variation Id: 522680
• ClinVar RCV Id: RCV000625826 ; RCV003420084
• dbSNP Id: rs760351849
• ExAC: 16:67199913 A / AGGTGCAGGCTTTGCGGGG
• gnomAD v2: 16-67199913-A-AGGTGCAGGCTTTGCGGGG
• gnomAD v3: 16-67166010-A-AGGTGCAGGCTTTGCGGGG
• gnomAD v4: 16-67166010-A-AGGTGCAGGCTTTGCGGGG
• MyVariant Identifiers: chr16:g.67199914_67199931dup (hg19) ; chr16:g.67199913_67199914insGGTGCAGGCTTTGCGGGG (hg19) ; chr16:g.67166011_67166028dup (hg38) ; chr16:g.67166010_67166011insGGTGCAGGCTTTGCGGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67166011_67166028dup , CM000678.2:g.67166011_67166028dup	GRCh38
NC_000016.9:g.67199914_67199931dup , CM000678.1:g.67199914_67199931dup	GRCh37
NC_000016.8:g.65757415_65757432dup	NCBI36
NG_009294.1:g.7627_7644dup
NG_029566.1:g.510_527dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000517867.2:n.709_726dup
ENST00000523077.2:n.925_942dup
ENST00000521374.6:c.426_443dup MANE Select	ENSP00000430947.2:p.Gly148_Val149insValGl...
ENST00000434833.6:c.426_443dup	ENSP00000403219.2:p.Gly148_Val149insValGl...
ENST00000517685.5:c.426_443dup	ENSP00000428978.1:p.Gly148_Val149insValGl...
ENST00000517729.5:c.300_300+17dup
ENST00000519224.5:c.74_74+17dup
ENST00000521314.5:c.*173_*190dup	ENSP00000429580.1:n.*173_*190dup
ENST00000521374.5:c.426_443dup	ENSP00000430947.1:p.Gly148_Val149insValGl...
ENST00000521624.5:c.426_443dup	ENSP00000428161.1:p.Gly148_Val149insValGl...
ENST00000522023.1:n.493_510dup
ENST00000522295.5:c.426_426+17dup
ENST00000522870.5:n.645_662dup
ENST00000523562.5:c.426_443dup	ENSP00000430631.1:p.Gly148_Val149insValGl...
ENST00000584272.5:c.426_443dup	ENSP00000463706.1:p.Gly148_Val149insValGl...
NM_001040667.2:c.426_443dup	NP_001035757.1:p.Gly148_Val149insValGlnAl...
NM_001538.3:c.426_443dup	NP_001529.2:p.Gly148_Val149insValGlnAlaLe...
NM_001040667.3:c.426_443dup	NP_001035757.1:p.Gly148_Val149insValGlnAl...
NM_001374674.1:c.426_443dup	NP_001361603.1:p.Gly148_Val149insValGlnAl...
NM_001374675.1:c.426_443dup MANE Select	NP_001361604.1:p.Gly148_Val149insValGlnAl...
NM_001538.4:c.426_443dup	NP_001529.2:p.Gly148_Val149insValGlnAlaLe...