Canonical Allele Identifier: CA2607500186

Gene: FH

Linked Data

• dbSNP Id: rs2147921645
• gnomAD v3: 1-241511864-T-TAATGAACA
• gnomAD v4: 1-241511864-T-TAATGAACA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511865_241511872dup , CM000663.2:g.241511865_241511872dup	GRCh38
NC_000001.10:g.241675165_241675172dup , CM000663.1:g.241675165_241675172dup	GRCh37
NC_000001.9:g.239741788_239741795dup	NCBI36
NG_012338.1:g.12883_12890dup , LRG_504:g.12883_12890dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+95_1058+102dup
ENST00000682162.1:c.584+95_584+102dup	ENSP00000508203.1:n.584+95_584+102dup
ENST00000682567.1:n.632+95_632+102dup
ENST00000683521.1:c.555+95_555+102dup	ENSP00000506864.1:n.555+95_555+102dup
ENST00000684483.1:c.555+95_555+102dup	ENSP00000507894.1:n.555+95_555+102dup
ENST00000366560.4:c.555+95_555+102dup MANE Select	ENSP00000355518.4:n.555+95_555+102dup
ENST00000366560.3:c.555+95_555+102dup	ENSP00000355518.3:n.555+95_555+102dup
NM_000143.3:c.555+95_555+102dup , LRG_504t1:c.555+95_555+102dup	NP_000134.2:n.555+95_555+102dup
XM_011544132.1:c.327+95_327+102dup	XP_011542434.1:n.327+95_327+102dup
XM_011544132.2:c.327+95_327+102dup	XP_011542434.1:n.327+95_327+102dup
NM_000143.4:c.555+95_555+102dup MANE Select	NP_000134.2:n.555+95_555+102dup