Canonical Allele Identifier: CA345438222

Gene: FH

Linked Data

• gnomAD v4: 1-241504138-T-C
• MyVariant Identifiers: chr1:g.241667438T>C (hg19) ; chr1:g.241504138T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504138T>C , CM000663.2:g.241504138T>C	GRCh38
NC_000001.10:g.241667438T>C , CM000663.1:g.241667438T>C	GRCh37
NC_000001.9:g.239734061T>C	NCBI36
NG_012338.1:g.20617A>G , LRG_504:g.20617A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1515A>G
ENST00000682162.1:c.1041A>G	ENSP00000508203.1:n.1041A>G
ENST00000682567.1:n.1089A>G
ENST00000683521.1:c.1012A>G	ENSP00000506864.1:p.Ile338Val
ENST00000684161.1:n.2227A>G
ENST00000684483.1:c.*408A>G	ENSP00000507894.1:n.*408A>G
ENST00000366560.4:c.1012A>G MANE Select	ENSP00000355518.4:p.Ile338Val
ENST00000366560.3:c.1012A>G	ENSP00000355518.3:p.Ile338Val
NM_000143.3:c.1012A>G , LRG_504t1:c.1012A>G	NP_000134.2:p.Ile338Val
XM_011544132.1:c.784A>G	XP_011542434.1:p.Ile262Val
XM_011544132.2:c.784A>G	XP_011542434.1:p.Ile262Val
NM_000143.4:c.1012A>G MANE Select	NP_000134.2:p.Ile338Val