Canonical Allele Identifier: CA1229581912

Gene: FH

Linked Data

• dbSNP Id: rs1660089005
• gnomAD v4: 1-241511734-TAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511737_241511738del , CM000663.2:g.241511737_241511738del	GRCh38
NC_000001.10:g.241675037_241675038del , CM000663.1:g.241675037_241675038del	GRCh37
NC_000001.9:g.239741660_239741661del	NCBI36
NG_012338.1:g.13019_13020del , LRG_504:g.13019_13020del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+231_1058+232del
ENST00000682162.1:c.584+231_584+232del	ENSP00000508203.1:n.584+231_584+232del
ENST00000682567.1:n.632+231_632+232del
ENST00000683521.1:c.555+231_555+232del	ENSP00000506864.1:n.555+231_555+232del
ENST00000684483.1:c.555+231_555+232del	ENSP00000507894.1:n.555+231_555+232del
ENST00000366560.4:c.555+231_555+232del MANE Select	ENSP00000355518.4:n.555+231_555+232del
ENST00000366560.3:c.555+231_555+232del	ENSP00000355518.3:n.555+231_555+232del
NM_000143.3:c.555+231_555+232del , LRG_504t1:c.555+231_555+232del	NP_000134.2:n.555+231_555+232del
XM_011544132.1:c.327+231_327+232del	XP_011542434.1:n.327+231_327+232del
XM_011544132.2:c.327+231_327+232del	XP_011542434.1:n.327+231_327+232del
NM_000143.4:c.555+231_555+232del MANE Select	NP_000134.2:n.555+231_555+232del