Canonical Allele Identifier: CA1478746

Gene: FH

Linked Data

• ClinVar Variation Id: 485565
• ClinVar RCV Id: RCV000571616 ; RCV000635311 ; RCV002528980
• dbSNP Id: rs146739519
• ExAC: 1:241680527 T / A
• gnomAD v2: 1-241680527-T-A
• gnomAD v3: 1-241517227-T-A
• gnomAD v4: 1-241517227-T-A
• MyVariant Identifiers: chr1:g.241680527T>A (hg19) ; chr1:g.241517227T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517227T>A , CM000663.2:g.241517227T>A	GRCh38
NC_000001.10:g.241680527T>A , CM000663.1:g.241680527T>A	GRCh37
NC_000001.9:g.239747150T>A	NCBI36
NG_012338.1:g.7528A>T , LRG_504:g.7528A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.725A>T
ENST00000682162.1:c.251A>T	ENSP00000508203.1:n.251A>T
ENST00000682567.1:n.299A>T
ENST00000683521.1:c.222A>T	ENSP00000506864.1:p.Arg74Ser
ENST00000684483.1:c.222A>T	ENSP00000507894.1:p.Arg74Ser
ENST00000366560.4:c.222A>T MANE Select	ENSP00000355518.4:p.Arg74Ser
ENST00000366560.3:c.222A>T	ENSP00000355518.3:p.Arg74Ser
ENST00000493477.1:n.335A>T
NM_000143.3:c.222A>T , LRG_504t1:c.222A>T	NP_000134.2:p.Arg74Ser
XM_011544132.1:c.-7A>T	XP_011542434.1:n.-7A>T
XM_011544132.2:c.-7A>T	XP_011542434.1:n.-7A>T
NM_000143.4:c.222A>T MANE Select	NP_000134.2:p.Arg74Ser