Canonical Allele Identifier: CA345436880

Gene: FH

Linked Data

• dbSNP Id: rs200004220
• MyVariant Identifiers: chr1:g.241663872A>T (hg19) ; chr1:g.241500572A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500572A>T , CM000663.2:g.241500572A>T	GRCh38
NC_000001.10:g.241663872A>T , CM000663.1:g.241663872A>T	GRCh37
NC_000001.9:g.239730495A>T	NCBI36
NG_012338.1:g.24183T>A , LRG_504:g.24183T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1758T>A
ENST00000682162.1:c.1284T>A	ENSP00000508203.1:n.1284T>A
ENST00000682567.1:n.4655T>A
ENST00000683521.1:c.1255T>A	ENSP00000506864.1:p.Ser419Thr
ENST00000684161.1:n.2470T>A
ENST00000684483.1:c.*651T>A	ENSP00000507894.1:n.*651T>A
ENST00000366560.4:c.1255T>A MANE Select	ENSP00000355518.4:p.Ser419Thr
ENST00000366560.3:c.1255T>A	ENSP00000355518.3:p.Ser419Thr
NM_000143.3:c.1255T>A , LRG_504t1:c.1255T>A	NP_000134.2:p.Ser419Thr
XM_011544132.1:c.1027T>A	XP_011542434.1:p.Ser343Thr
XM_011544132.2:c.1027T>A	XP_011542434.1:p.Ser343Thr
NM_000143.4:c.1255T>A MANE Select	NP_000134.2:p.Ser419Thr