Canonical Allele Identifier: CA345438325

Gene: FH

Linked Data

• dbSNP Id: rs2147916259
• gnomAD v4: 1-241504186-C-T
• MyVariant Identifiers: chr1:g.241667486C>T (hg19) ; chr1:g.241504186C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504186C>T , CM000663.2:g.241504186C>T	GRCh38
NC_000001.10:g.241667486C>T , CM000663.1:g.241667486C>T	GRCh37
NC_000001.9:g.239734109C>T	NCBI36
NG_012338.1:g.20569G>A , LRG_504:g.20569G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1467G>A
ENST00000682162.1:c.993G>A	ENSP00000508203.1:n.993G>A
ENST00000682567.1:n.1041G>A
ENST00000683521.1:c.964G>A	ENSP00000506864.1:p.Val322Ile
ENST00000684161.1:n.2179G>A
ENST00000684483.1:c.*360G>A	ENSP00000507894.1:n.*360G>A
ENST00000366560.4:c.964G>A MANE Select	ENSP00000355518.4:p.Val322Ile
ENST00000366560.3:c.964G>A	ENSP00000355518.3:p.Val322Ile
NM_000143.3:c.964G>A , LRG_504t1:c.964G>A	NP_000134.2:p.Val322Ile
XM_011544132.1:c.736G>A	XP_011542434.1:p.Val246Ile
XM_011544132.2:c.736G>A	XP_011542434.1:p.Val246Ile
NM_000143.4:c.964G>A MANE Select	NP_000134.2:p.Val322Ile