Canonical Allele Identifier: CA345439183

Gene: FH

Linked Data

• dbSNP Id: rs2147919416
• gnomAD v4: 1-241508625-G-A
• MyVariant Identifiers: chr1:g.241671925G>A (hg19) ; chr1:g.241508625G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508625G>A , CM000663.2:g.241508625G>A	GRCh38
NC_000001.10:g.241671925G>A , CM000663.1:g.241671925G>A	GRCh37
NC_000001.9:g.239738548G>A	NCBI36
NG_012338.1:g.16130C>T , LRG_504:g.16130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1219C>T
ENST00000682162.1:c.745C>T	ENSP00000508203.1:n.745C>T
ENST00000682567.1:n.793C>T
ENST00000683521.1:c.716C>T	ENSP00000506864.1:p.Ala239Val
ENST00000684161.1:n.1931C>T
ENST00000684483.1:c.*112C>T	ENSP00000507894.1:n.*112C>T
ENST00000366560.4:c.716C>T MANE Select	ENSP00000355518.4:p.Ala239Val
ENST00000366560.3:c.716C>T	ENSP00000355518.3:p.Ala239Val
NM_000143.3:c.716C>T , LRG_504t1:c.716C>T	NP_000134.2:p.Ala239Val
XM_011544132.1:c.488C>T	XP_011542434.1:p.Ala163Val
XM_011544132.2:c.488C>T	XP_011542434.1:p.Ala163Val
NM_000143.4:c.716C>T MANE Select	NP_000134.2:p.Ala239Val