Canonical Allele Identifier: CA345438407

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241667530G>T (hg19) ; chr1:g.241504230G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504230G>T , CM000663.2:g.241504230G>T	GRCh38
NC_000001.10:g.241667530G>T , CM000663.1:g.241667530G>T	GRCh37
NC_000001.9:g.239734153G>T	NCBI36
NG_012338.1:g.20525C>A , LRG_504:g.20525C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1423C>A
ENST00000682162.1:c.949C>A	ENSP00000508203.1:n.949C>A
ENST00000682567.1:n.997C>A
ENST00000683521.1:c.920C>A	ENSP00000506864.1:p.Thr307Asn
ENST00000684161.1:n.2135C>A
ENST00000684483.1:c.*316C>A	ENSP00000507894.1:n.*316C>A
ENST00000366560.4:c.920C>A MANE Select	ENSP00000355518.4:p.Thr307Asn
ENST00000366560.3:c.920C>A	ENSP00000355518.3:p.Thr307Asn
NM_000143.3:c.920C>A , LRG_504t1:c.920C>A	NP_000134.2:p.Thr307Asn
XM_011544132.1:c.692C>A	XP_011542434.1:p.Thr231Asn
XM_011544132.2:c.692C>A	XP_011542434.1:p.Thr231Asn
NM_000143.4:c.920C>A MANE Select	NP_000134.2:p.Thr307Asn