Canonical Allele Identifier: CA345439480

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241672070A>G (hg19) ; chr1:g.241508770A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508770A>G , CM000663.2:g.241508770A>G	GRCh38
NC_000001.10:g.241672070A>G , CM000663.1:g.241672070A>G	GRCh37
NC_000001.9:g.239738693A>G	NCBI36
NG_012338.1:g.15985T>C , LRG_504:g.15985T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1074T>C
ENST00000682162.1:c.600T>C	ENSP00000508203.1:n.600T>C
ENST00000682567.1:n.648T>C
ENST00000683521.1:c.571T>C	ENSP00000506864.1:p.Phe191Leu
ENST00000684161.1:n.1786T>C
ENST00000684483.1:c.556-10T>C	ENSP00000507894.1:n.556-10T>C
ENST00000366560.4:c.571T>C MANE Select	ENSP00000355518.4:p.Phe191Leu
ENST00000366560.3:c.571T>C	ENSP00000355518.3:p.Phe191Leu
NM_000143.3:c.571T>C , LRG_504t1:c.571T>C	NP_000134.2:p.Phe191Leu
XM_011544132.1:c.343T>C	XP_011542434.1:p.Phe115Leu
XM_011544132.2:c.343T>C	XP_011542434.1:p.Phe115Leu
NM_000143.4:c.571T>C MANE Select	NP_000134.2:p.Phe191Leu