Canonical Allele Identifier: CA189176
Gene: FH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241519601G>A
GRCh37 chr1:g.241682901G>A
Revel Score:
ENST00000366560 (MANE Select) 0.333
gnomAD v2:
1:241682901 G / A
gnomAD v3:
1:241519601 G / A
gnomAD v4:
chr1-241519601-G-A
Joint Max Group AF 0.00002135 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.0000206 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241519601G>A , CM000663.2:g.241519601G>A GRCh38
NC_000001.10:g.241682901G>A , CM000663.1:g.241682901G>A GRCh37
NC_000001.9:g.239749524G>A NCBI36
NG_012338.1:g.5154C>T , LRG_504:g.5154C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.94C>T
ENST00000682162.1:c.122C>T ENSP00000508203.1:p.Ala41Val
ENST00000682567.1:n.199C>T
ENST00000683521.1:c.122C>T ENSP00000506864.1:p.Ala41Val
ENST00000684483.1:c.122C>T ENSP00000507894.1:p.Ala41Val
ENST00000366560.4:c.122C>T MANE Select ENSP00000355518.4:p.Ala41Val
ENST00000366560.3:c.122C>T ENSP00000355518.3:p.Ala41Val
NM_000143.3:c.122C>T , LRG_504t1:c.122C>T NP_000134.2:p.Ala41Val
XM_011544132.2:c.-638C>T XP_011542434.1:n.-638C>T
NM_000143.4:c.122C>T MANE Select NP_000134.2:p.Ala41Val
Search 100 bp 5'
Search 100 bp 3'