Canonical Allele Identifier: CA424076623

Gene: FH

Linked Data

• gnomAD v4: 1-241517302-G-A
• COSMIC: COSM4990544
• MyVariant Identifiers: chr1:g.241680602G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517302G>A , CM000663.2:g.241517302G>A	GRCh38
NC_000001.10:g.241680602G>A , CM000663.1:g.241680602G>A	GRCh37
NC_000001.9:g.239747225G>A	NCBI36
NG_012338.1:g.7453C>T , LRG_504:g.7453C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.650C>T
ENST00000682162.1:c.176C>T	ENSP00000508203.1:p.Pro59Leu
ENST00000682567.1:n.224C>T
ENST00000683521.1:c.147C>T	ENSP00000506864.1:p.Ser49=
ENST00000684483.1:c.147C>T	ENSP00000507894.1:p.Ser49=
ENST00000366560.4:c.147C>T MANE Select	ENSP00000355518.4:p.Ser49=
ENST00000366560.3:c.147C>T	ENSP00000355518.3:p.Ser49=
ENST00000493477.1:n.260C>T
NM_000143.3:c.147C>T , LRG_504t1:c.147C>T	NP_000134.2:p.Ser49=
XM_011544132.1:c.-82C>T	XP_011542434.1:n.-82C>T
XM_011544132.2:c.-82C>T	XP_011542434.1:n.-82C>T
NM_000143.4:c.147C>T MANE Select	NP_000134.2:p.Ser49=