Canonical Allele Identifier: CA733642179

Gene: FH

Linked Data

• dbSNP Id: rs1302753119
• gnomAD v3: 1-241511830-GAAAT-G
• gnomAD v4: 1-241511830-GAAAT-G
• MyVariant Identifiers: chr1:g.241675131_241675134del (hg19) ; chr1:g.241511831_241511834del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511833_241511836del , CM000663.2:g.241511833_241511836del	GRCh38
NC_000001.10:g.241675133_241675136del , CM000663.1:g.241675133_241675136del	GRCh37
NC_000001.9:g.239741756_239741759del	NCBI36
NG_012338.1:g.12921_12924del , LRG_504:g.12921_12924del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+133_1058+136del
ENST00000682162.1:c.584+133_584+136del	ENSP00000508203.1:n.584+133_584+136del
ENST00000682567.1:n.632+133_632+136del
ENST00000683521.1:c.555+133_555+136del	ENSP00000506864.1:n.555+133_555+136del
ENST00000684483.1:c.555+133_555+136del	ENSP00000507894.1:n.555+133_555+136del
ENST00000366560.4:c.555+133_555+136del MANE Select	ENSP00000355518.4:n.555+133_555+136del
ENST00000366560.3:c.555+133_555+136del	ENSP00000355518.3:n.555+133_555+136del
NM_000143.3:c.555+133_555+136del , LRG_504t1:c.555+133_555+136del	NP_000134.2:n.555+133_555+136del
XM_011544132.1:c.327+133_327+136del	XP_011542434.1:n.327+133_327+136del
XM_011544132.2:c.327+133_327+136del	XP_011542434.1:n.327+133_327+136del
NM_000143.4:c.555+133_555+136del MANE Select	NP_000134.2:n.555+133_555+136del