Canonical Allele Identifier: CA8101768

Gene: HSF4

Linked Data

• ClinVar Variation Id: 1507878
• ClinVar RCV Id: RCV002013680
• dbSNP Id: rs758027535
• ExAC: 16:67199646 T / C
• gnomAD v2: 16-67199646-T-C
• gnomAD v3: 16-67165743-T-C
• gnomAD v4: 16-67165743-T-C
• MyVariant Identifiers: chr16:g.67199646T>C (hg19) ; chr16:g.67165743T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67165743T>C , CM000678.2:g.67165743T>C	GRCh38
NC_000016.9:g.67199646T>C , CM000678.1:g.67199646T>C	GRCh37
NC_000016.8:g.65757147T>C	NCBI36
NG_009294.1:g.7359T>C
NG_029566.1:g.242T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517867.2:n.540T>C
ENST00000523077.2:n.756T>C
ENST00000521374.6:c.257T>C MANE Select	ENSP00000430947.2:p.Ile86Thr
ENST00000434833.6:c.257T>C	ENSP00000403219.2:p.Ile86Thr
ENST00000517685.5:c.257T>C	ENSP00000428978.1:p.Ile86Thr
ENST00000517729.5:c.131T>C	ENSP00000430299.1:p.Ile44Thr
ENST00000518753.5:c.429T>C
ENST00000521314.5:c.*4T>C	ENSP00000429580.1:n.*4T>C
ENST00000521374.5:c.257T>C	ENSP00000430947.1:p.Ile86Thr
ENST00000521624.5:c.257T>C	ENSP00000428161.1:p.Ile86Thr
ENST00000522023.1:n.324T>C
ENST00000522295.5:c.257T>C	ENSP00000427832.1:p.Ile86Thr
ENST00000522870.5:n.476T>C
ENST00000523077.1:n.756T>C
ENST00000523562.5:c.257T>C	ENSP00000430631.1:p.Ile86Thr
ENST00000580114.5:c.1222T>C
ENST00000584272.5:c.257T>C	ENSP00000463706.1:p.Ile86Thr
NM_001040667.2:c.257T>C	NP_001035757.1:p.Ile86Thr
NM_001538.3:c.257T>C	NP_001529.2:p.Ile86Thr
NM_001040667.3:c.257T>C	NP_001035757.1:p.Ile86Thr
NM_001374674.1:c.257T>C	NP_001361603.1:p.Ile86Thr
NM_001374675.1:c.257T>C MANE Select	NP_001361604.1:p.Ile86Thr
NM_001538.4:c.257T>C	NP_001529.2:p.Ile86Thr