Canonical Allele Identifier: CA345442710
Gene: FH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241519625A>C
GRCh37 chr1:g.241682925A>C
Revel Score:
ENST00000366560 (MANE Select) 0.374
gnomAD v2:
1:241682925 A / C
gnomAD v4:
chr1-241519625-A-C
Joint Max Group AF 7e-7 (NFE)
Exomes Max Group AF 7.4e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241519625A>C , CM000663.2:g.241519625A>C GRCh38
NC_000001.10:g.241682925A>C , CM000663.1:g.241682925A>C GRCh37
NC_000001.9:g.239749548A>C NCBI36
NG_012338.1:g.5130T>G , LRG_504:g.5130T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.70T>G
ENST00000682162.1:c.98T>G ENSP00000508203.1:p.Val33Gly
ENST00000682567.1:n.175T>G
ENST00000683521.1:c.98T>G ENSP00000506864.1:p.Val33Gly
ENST00000684483.1:c.98T>G ENSP00000507894.1:p.Val33Gly
ENST00000366560.4:c.98T>G MANE Select ENSP00000355518.4:p.Val33Gly
ENST00000366560.3:c.98T>G ENSP00000355518.3:p.Val33Gly
NM_000143.3:c.98T>G , LRG_504t1:c.98T>G NP_000134.2:p.Val33Gly
XM_011544132.2:c.-662T>G XP_011542434.1:n.-662T>G
NM_000143.4:c.98T>G MANE Select NP_000134.2:p.Val33Gly
Search 100 bp 5'
Search 100 bp 3'