Canonical Allele Identifier: CA159740
Gene: FH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241506024C>T
GRCh37 chr1:g.241669324C>T
Revel Score:
ENST00000366560 (MANE Select) 0.447
gnomAD v2:
1:241669324 C / T
gnomAD v3:
1:241506024 C / T
gnomAD v4:
chr1-241506024-C-T
Joint Max Group AF 0.00042554 (AFR)
Genomes Max Group AF 0.00039899 (AFR)
Exomes Max Group AF 0.00034743 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241506024C>T , CM000663.2:g.241506024C>T GRCh38
NC_000001.10:g.241669324C>T , CM000663.1:g.241669324C>T GRCh37
NC_000001.9:g.239735947C>T NCBI36
NG_012338.1:g.18731G>A , LRG_504:g.18731G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1386G>A
ENST00000682162.1:c.912G>A ENSP00000508203.1:n.912G>A
ENST00000682567.1:n.960G>A
ENST00000683521.1:c.883G>A ENSP00000506864.1:p.Ala295Thr
ENST00000684161.1:n.2098G>A
ENST00000684483.1:c.*279G>A ENSP00000507894.1:n.*279G>A
ENST00000366560.4:c.883G>A MANE Select ENSP00000355518.4:p.Ala295Thr
ENST00000366560.3:c.883G>A ENSP00000355518.3:p.Ala295Thr
NM_000143.3:c.883G>A , LRG_504t1:c.883G>A NP_000134.2:p.Ala295Thr
XM_011544132.1:c.655G>A XP_011542434.1:p.Ala219Thr
XM_011544132.2:c.655G>A XP_011542434.1:p.Ala219Thr
NM_000143.4:c.883G>A MANE Select NP_000134.2:p.Ala295Thr
Search 100 bp 5'
Search 100 bp 3'