Canonical Allele Identifier: CA325181
Gene: FH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241504053C>T
GRCh37 chr1:g.241667353C>T
Revel Score:
ENST00000366560 (MANE Select) 0.877
gnomAD v4:
chr1-241504053-C-T
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar Allele:
210669
ClinVar RCV:
RCV000200592
RCV001017278
RCV002291591
ClinVar Variation:
214419
dbSNP:
863224004
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504053C>T , CM000663.2:g.241504053C>T GRCh38
NC_000001.10:g.241667353C>T , CM000663.1:g.241667353C>T GRCh37
NC_000001.9:g.239733976C>T NCBI36
NG_012338.1:g.20702G>A , LRG_504:g.20702G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1600G>A
ENST00000682162.1:c.1126G>A ENSP00000508203.1:n.1126G>A
ENST00000682567.1:n.1174G>A
ENST00000683521.1:c.1097G>A ENSP00000506864.1:p.Ser366Asn
ENST00000684161.1:n.2312G>A
ENST00000684483.1:c.*493G>A ENSP00000507894.1:n.*493G>A
ENST00000366560.4:c.1097G>A MANE Select ENSP00000355518.4:p.Ser366Asn
ENST00000366560.3:c.1097G>A ENSP00000355518.3:p.Ser366Asn
NM_000143.3:c.1097G>A , LRG_504t1:c.1097G>A NP_000134.2:p.Ser366Asn
XM_011544132.1:c.869G>A XP_011542434.1:p.Ser290Asn
XM_011544132.2:c.869G>A XP_011542434.1:p.Ser290Asn
NM_000143.4:c.1097G>A MANE Select NP_000134.2:p.Ser366Asn
Search 100 bp 5'
Search 100 bp 3'