Canonical Allele Identifier: CA345436477

Gene: FH

Linked Data

• ClinVar Variation Id: 1770453
• ClinVar RCV Id: RCV002387801
• MyVariant Identifiers: chr1:g.241663782T>A (hg19) ; chr1:g.241500482T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500482T>A , CM000663.2:g.241500482T>A	GRCh38
NC_000001.10:g.241663782T>A , CM000663.1:g.241663782T>A	GRCh37
NC_000001.9:g.239730405T>A	NCBI36
NG_012338.1:g.24273A>T , LRG_504:g.24273A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1848A>T
ENST00000682162.1:c.1374A>T	ENSP00000508203.1:n.1374A>T
ENST00000682567.1:n.4745A>T
ENST00000683521.1:c.1345A>T	ENSP00000506864.1:p.Met449Leu
ENST00000684161.1:n.2560A>T
ENST00000684483.1:c.*741A>T	ENSP00000507894.1:n.*741A>T
ENST00000366560.4:c.1345A>T MANE Select	ENSP00000355518.4:p.Met449Leu
ENST00000366560.3:c.1345A>T	ENSP00000355518.3:p.Met449Leu
NM_000143.3:c.1345A>T , LRG_504t1:c.1345A>T	NP_000134.2:p.Met449Leu
XM_011544132.1:c.1117A>T	XP_011542434.1:p.Met373Leu
XM_011544132.2:c.1117A>T	XP_011542434.1:p.Met373Leu
NM_000143.4:c.1345A>T MANE Select	NP_000134.2:p.Met449Leu