Canonical Allele Identifier: CA118624
Gene: HSF4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7092
ClinVar RCV Id: RCV000007509
dbSNP Id: rs121909048

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67165827T>C , CM000678.2:g.67165827T>C GRCh38
NC_000016.8:g.65757231T>C NCBI36
NC_000016.9:g.67199730T>C , CM000678.1:g.67199730T>C GRCh37
NG_009294.1:g.7443T>C
NG_029566.1:g.326T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000434833.6:c.341T>C ENSP00000403219.2:p.Leu114Pro
ENST00000517685.5:n.341T>C ENSP00000428978.1:p.Leu114Pro
ENST00000517729.5:n.215T>C ENSP00000430299.1:p.Leu72Pro
ENST00000521314.5:c.*88T>C ENSP00000429580.1:p.=
ENST00000521374.5:n.341T>C ENSP00000430947.1:p.Leu114Pro
ENST00000521624.5:c.341T>C ENSP00000428161.1:p.Leu114Pro
ENST00000522023.1:n.408T>C
ENST00000522295.5:c.341T>C ENSP00000427832.1:p.Leu114Pro
ENST00000522870.5:n.560T>C
ENST00000523562.5:c.341T>C ENSP00000430631.1:p.Leu114Pro
ENST00000584272.5:n.341T>C ENSP00000463706.1:p.Leu114Pro
NM_001040667.2:c.341T>C VV NP_001035757.1:p.Leu114Pro
NM_001538.3:c.341T>C VV NP_001529.2:p.Leu114Pro