Canonical Allele Identifier: CA345440116

Gene: FH

Linked Data

• gnomAD v4: 1-241512089-A-T
• MyVariant Identifiers: chr1:g.241675389A>T (hg19) ; chr1:g.241512089A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512089A>T , CM000663.2:g.241512089A>T	GRCh38
NC_000001.10:g.241675389A>T , CM000663.1:g.241675389A>T	GRCh37
NC_000001.9:g.239742012A>T	NCBI36
NG_012338.1:g.12666T>A , LRG_504:g.12666T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.936T>A
ENST00000682162.1:c.462T>A	ENSP00000508203.1:n.462T>A
ENST00000682567.1:n.510T>A
ENST00000683521.1:c.433T>A	ENSP00000506864.1:p.Ser145Thr
ENST00000684483.1:c.433T>A	ENSP00000507894.1:p.Ser145Thr
ENST00000366560.4:c.433T>A MANE Select	ENSP00000355518.4:p.Ser145Thr
ENST00000366560.3:c.433T>A	ENSP00000355518.3:p.Ser145Thr
ENST00000497042.1:n.129T>A
NM_000143.3:c.433T>A , LRG_504t1:c.433T>A	NP_000134.2:p.Ser145Thr
XM_011544132.1:c.205T>A	XP_011542434.1:p.Ser69Thr
XM_011544132.2:c.205T>A	XP_011542434.1:p.Ser69Thr
NM_000143.4:c.433T>A MANE Select	NP_000134.2:p.Ser145Thr