Canonical Allele Identifier: CA1478691

Gene: FH

Linked Data

• ClinVar Variation Id: 296874
• ClinVar RCV Id: RCV000321597 ; RCV000360971 ; RCV000436971 ; RCV002522125
• dbSNP Id: rs374529177
• ExAC: 1:241675458 T / A
• gnomAD v2: 1-241675458-T-A
• gnomAD v3: 1-241512158-T-A
• gnomAD v4: 1-241512158-T-A
• MyVariant Identifiers: chr1:g.241675458T>A (hg19) ; chr1:g.241512158T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512158T>A , CM000663.2:g.241512158T>A	GRCh38
NC_000001.10:g.241675458T>A , CM000663.1:g.241675458T>A	GRCh37
NC_000001.9:g.239742081T>A	NCBI36
NG_012338.1:g.12597A>T , LRG_504:g.12597A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.882-15A>T
ENST00000682162.1:c.408-15A>T	ENSP00000508203.1:n.408-15A>T
ENST00000682567.1:n.456-15A>T
ENST00000683521.1:c.379-15A>T	ENSP00000506864.1:n.379-15A>T
ENST00000684483.1:c.379-15A>T	ENSP00000507894.1:n.379-15A>T
ENST00000366560.4:c.379-15A>T MANE Select	ENSP00000355518.4:n.379-15A>T
ENST00000366560.3:c.379-15A>T	ENSP00000355518.3:n.379-15A>T
ENST00000497042.1:n.75-15A>T
NM_000143.3:c.379-15A>T , LRG_504t1:c.379-15A>T	NP_000134.2:n.379-15A>T
XM_011544132.1:c.151-15A>T	XP_011542434.1:n.151-15A>T
XM_011544132.2:c.151-15A>T	XP_011542434.1:n.151-15A>T
NM_000143.4:c.379-15A>T MANE Select	NP_000134.2:n.379-15A>T