Canonical Allele Identifier: CA345438361

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241667507G>T (hg19) ; chr1:g.241504207G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504207G>T , CM000663.2:g.241504207G>T	GRCh38
NC_000001.10:g.241667507G>T , CM000663.1:g.241667507G>T	GRCh37
NC_000001.9:g.239734130G>T	NCBI36
NG_012338.1:g.20548C>A , LRG_504:g.20548C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1446C>A
ENST00000682162.1:c.972C>A	ENSP00000508203.1:n.972C>A
ENST00000682567.1:n.1020C>A
ENST00000683521.1:c.943C>A	ENSP00000506864.1:p.Leu315Met
ENST00000684161.1:n.2158C>A
ENST00000684483.1:c.*339C>A	ENSP00000507894.1:n.*339C>A
ENST00000366560.4:c.943C>A MANE Select	ENSP00000355518.4:p.Leu315Met
ENST00000366560.3:c.943C>A	ENSP00000355518.3:p.Leu315Met
NM_000143.3:c.943C>A , LRG_504t1:c.943C>A	NP_000134.2:p.Leu315Met
XM_011544132.1:c.715C>A	XP_011542434.1:p.Leu239Met
XM_011544132.2:c.715C>A	XP_011542434.1:p.Leu239Met
NM_000143.4:c.943C>A MANE Select	NP_000134.2:p.Leu315Met