Canonical Allele Identifier: CA10644072

Gene: FBXL8 HSF4

Linked Data

• ClinVar Variation Id: 320170
• ClinVar RCV Id: RCV000298679
• dbSNP Id: rs886052214
• gnomAD v4: 16-67164458-C-A
• MyVariant Identifiers: chr16:g.67198361C>A (hg19) ; chr16:g.67164458C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67164458C>A , CM000678.2:g.67164458C>A	GRCh38
NC_000016.9:g.67198361C>A , CM000678.1:g.67198361C>A	GRCh37
NC_000016.8:g.65755862C>A	NCBI36
NG_009294.1:g.6074C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517382.5:c.296C>A (FBXL8)	ENSP00000430745.1:p.Thr99Asn
ENST00000518227.1:c.289C>A
ENST00000518603.1:n.487C>A (FBXL8)
ENST00000518753.5:c.295+314C>A
ENST00000523360.1:n.138C>A
ENST00000580114.5:c.612C>A
NM_001040667.2:c.-354C>A (HSF4)	NP_001035757.1:n.-354C>A
NM_001538.3:c.-354C>A (HSF4)	NP_001529.2:n.-354C>A
NM_001040667.3:c.-354C>A (HSF4)	NP_001035757.1:n.-354C>A
NM_001538.4:c.-354C>A (HSF4)	NP_001529.2:n.-354C>A