Canonical Allele Identifier: CA1478641
Gene: FH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241508686C>T
GRCh37 chr1:g.241671986C>T
Revel Score:
ENST00000366560 (MANE Select) 0.268
gnomAD v2:
1:241671986 C / T
gnomAD v3:
1:241508686 C / T
gnomAD v4:
chr1-241508686-C-T
Joint Max Group AF 0.00005802 (MID)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00006094 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508686C>T , CM000663.2:g.241508686C>T GRCh38
NC_000001.10:g.241671986C>T , CM000663.1:g.241671986C>T GRCh37
NC_000001.9:g.239738609C>T NCBI36
NG_012338.1:g.16069G>A , LRG_504:g.16069G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1158G>A
ENST00000682162.1:c.684G>A ENSP00000508203.1:n.684G>A
ENST00000682567.1:n.732G>A
ENST00000683521.1:c.655G>A ENSP00000506864.1:p.Asp219Asn
ENST00000684161.1:n.1870G>A
ENST00000684483.1:c.*51G>A ENSP00000507894.1:n.*51G>A
ENST00000366560.4:c.655G>A MANE Select ENSP00000355518.4:p.Asp219Asn
ENST00000366560.3:c.655G>A ENSP00000355518.3:p.Asp219Asn
NM_000143.3:c.655G>A , LRG_504t1:c.655G>A NP_000134.2:p.Asp219Asn
XM_011544132.1:c.427G>A XP_011542434.1:p.Asp143Asn
XM_011544132.2:c.427G>A XP_011542434.1:p.Asp143Asn
NM_000143.4:c.655G>A MANE Select NP_000134.2:p.Asp219Asn
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