Canonical Allele Identifier: CA530378922

Gene: FH

Linked Data

• dbSNP Id: rs1157298201
• gnomAD v2: 1-241663705-C-CA
• gnomAD v3: 1-241500405-C-CA
• gnomAD v4: 1-241500405-C-CA
• MyVariant Identifiers: chr1:g.241663705_241663706insA (hg19) ; chr1:g.241500405_241500406insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500409dup , CM000663.2:g.241500409dup	GRCh38
NC_000001.10:g.241663709dup , CM000663.1:g.241663709dup	GRCh37
NC_000001.9:g.239730332dup	NCBI36
NG_012338.1:g.24349dup , LRG_504:g.24349dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1893+31dup
ENST00000682162.1:c.1419+31dup	ENSP00000508203.1:n.1419+31dup
ENST00000682567.1:n.4790+31dup
ENST00000683521.1:c.1421dup	ENSP00000506864.1:p.Leu474PhefsTer12
ENST00000684161.1:n.2605+31dup
ENST00000684483.1:c.*786+31dup	ENSP00000507894.1:n.*786+31dup
ENST00000366560.4:c.1390+31dup MANE Select	ENSP00000355518.4:n.1390+31dup
ENST00000366560.3:c.1390+31dup	ENSP00000355518.3:n.1390+31dup
NM_000143.3:c.1390+31dup , LRG_504t1:c.1390+31dup	NP_000134.2:n.1390+31dup
XM_011544132.1:c.1162+31dup	XP_011542434.1:n.1162+31dup
XM_011544132.2:c.1162+31dup	XP_011542434.1:n.1162+31dup
NM_000143.4:c.1390+31dup MANE Select	NP_000134.2:n.1390+31dup