Canonical Allele Identifier: CA345441922

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241680571G>C (hg19) ; chr1:g.241517271G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517271G>C , CM000663.2:g.241517271G>C	GRCh38
NC_000001.10:g.241680571G>C , CM000663.1:g.241680571G>C	GRCh37
NC_000001.9:g.239747194G>C	NCBI36
NG_012338.1:g.7484C>G , LRG_504:g.7484C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.681C>G
ENST00000682162.1:c.207C>G	ENSP00000508203.1:n.207C>G
ENST00000682567.1:n.255C>G
ENST00000683521.1:c.178C>G	ENSP00000506864.1:p.Leu60Val
ENST00000684483.1:c.178C>G	ENSP00000507894.1:p.Leu60Val
ENST00000366560.4:c.178C>G MANE Select	ENSP00000355518.4:p.Leu60Val
ENST00000366560.3:c.178C>G	ENSP00000355518.3:p.Leu60Val
ENST00000493477.1:n.291C>G
NM_000143.3:c.178C>G , LRG_504t1:c.178C>G	NP_000134.2:p.Leu60Val
XM_011544132.1:c.-51C>G	XP_011542434.1:n.-51C>G
XM_011544132.2:c.-51C>G	XP_011542434.1:n.-51C>G
NM_000143.4:c.178C>G MANE Select	NP_000134.2:p.Leu60Val