Canonical Allele Identifier: CA167337
Gene: FH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241508761C>T
GRCh37 chr1:g.241672061C>T
Revel Score:
ENST00000366560 (MANE Select) 0.965
gnomAD v2:
1:241672061 C / T
gnomAD v3:
1:241508761 C / T
gnomAD v4:
chr1-241508761-C-T
Joint Max Group AF 0.00077426 (MID)
Genomes Max Group AF 0.00003763 (NFE)
Exomes Max Group AF 0.00081411 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508761C>T , CM000663.2:g.241508761C>T GRCh38
NC_000001.10:g.241672061C>T , CM000663.1:g.241672061C>T GRCh37
NC_000001.9:g.239738684C>T NCBI36
NG_012338.1:g.15994G>A , LRG_504:g.15994G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1083G>A
ENST00000682162.1:c.609G>A ENSP00000508203.1:n.609G>A
ENST00000682567.1:n.657G>A
ENST00000683521.1:c.580G>A ENSP00000506864.1:p.Ala194Thr
ENST00000684161.1:n.1795G>A
ENST00000684483.1:c.556-1G>A ENSP00000507894.1:n.556-1G>A
ENST00000366560.4:c.580G>A MANE Select ENSP00000355518.4:p.Ala194Thr
ENST00000366560.3:c.580G>A ENSP00000355518.3:p.Ala194Thr
NM_000143.3:c.580G>A , LRG_504t1:c.580G>A NP_000134.2:p.Ala194Thr
XM_011544132.1:c.352G>A XP_011542434.1:p.Ala118Thr
XM_011544132.2:c.352G>A XP_011542434.1:p.Ala118Thr
NM_000143.4:c.580G>A MANE Select NP_000134.2:p.Ala194Thr
Search 100 bp 5'
Search 100 bp 3'