Canonical Allele Identifier: CA1478746
Gene: FH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241517227T>A
GRCh37 chr1:g.241680527T>A
Revel Score:
ENST00000366560 (MANE Select) 0.852
gnomAD v2:
1:241680527 T / A
gnomAD v3:
1:241517227 T / A
gnomAD v4:
chr1-241517227-T-A
Joint Max Group AF 0.00000542 (NFE)
Exomes Max Group AF 0.00000531 (NFE)
ClinVar Allele:
472311
ClinVar RCV:
RCV000571616
RCV000635311
RCV002528980
ClinVar Variation:
485565
dbSNP:
146739519
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'