Canonical Allele Identifier: CA1229581915

Gene: FH

Linked Data

• dbSNP Id: rs1660089129

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511742del , CM000663.2:g.241511742del	GRCh38
NC_000001.10:g.241675042del , CM000663.1:g.241675042del	GRCh37
NC_000001.9:g.239741665del	NCBI36
NG_012338.1:g.13016del , LRG_504:g.13016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+228del
ENST00000682162.1:c.584+228del	ENSP00000508203.1:n.584+228del
ENST00000682567.1:n.632+228del
ENST00000683521.1:c.555+228del	ENSP00000506864.1:n.555+228del
ENST00000684483.1:c.555+228del	ENSP00000507894.1:n.555+228del
ENST00000366560.4:c.555+228del MANE Select	ENSP00000355518.4:n.555+228del
ENST00000366560.3:c.555+228del	ENSP00000355518.3:n.555+228del
NM_000143.3:c.555+228del , LRG_504t1:c.555+228del	NP_000134.2:n.555+228del
XM_011544132.1:c.327+228del	XP_011542434.1:n.327+228del
XM_011544132.2:c.327+228del	XP_011542434.1:n.327+228del
NM_000143.4:c.555+228del MANE Select	NP_000134.2:n.555+228del