Canonical Allele Identifier: CA159743
Gene: FH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241504137A>G
GRCh37 chr1:g.241667437A>G
Revel Score:
ENST00000366560 (MANE Select) 0.970
gnomAD v2:
1:241667437 A / G
gnomAD v3:
1:241504137 A / G
gnomAD v4:
chr1-241504137-A-G
Joint Max Group AF 0.00057405 (SAS)
Genomes Max Group AF 0.00016881 (SAS)
Exomes Max Group AF 0.0005745 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504137A>G , CM000663.2:g.241504137A>G GRCh38
NC_000001.10:g.241667437A>G , CM000663.1:g.241667437A>G GRCh37
NC_000001.9:g.239734060A>G NCBI36
NG_012338.1:g.20618T>C , LRG_504:g.20618T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1516T>C
ENST00000682162.1:c.1042T>C ENSP00000508203.1:n.1042T>C
ENST00000682567.1:n.1090T>C
ENST00000683521.1:c.1013T>C ENSP00000506864.1:p.Ile338Thr
ENST00000684161.1:n.2228T>C
ENST00000684483.1:c.*409T>C ENSP00000507894.1:n.*409T>C
ENST00000366560.4:c.1013T>C MANE Select ENSP00000355518.4:p.Ile338Thr
ENST00000366560.3:c.1013T>C ENSP00000355518.3:p.Ile338Thr
NM_000143.3:c.1013T>C , LRG_504t1:c.1013T>C NP_000134.2:p.Ile338Thr
XM_011544132.1:c.785T>C XP_011542434.1:p.Ile262Thr
XM_011544132.2:c.785T>C XP_011542434.1:p.Ile262Thr
NM_000143.4:c.1013T>C MANE Select NP_000134.2:p.Ile338Thr
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