Canonical Allele Identifier: CA424076346

Gene: FH

Linked Data

• gnomAD v4: 1-241512135-T-C
• MyVariant Identifiers: chr1:g.241675435T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512135T>C , CM000663.2:g.241512135T>C	GRCh38
NC_000001.10:g.241675435T>C , CM000663.1:g.241675435T>C	GRCh37
NC_000001.9:g.239742058T>C	NCBI36
NG_012338.1:g.12620A>G , LRG_504:g.12620A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.890A>G
ENST00000682162.1:c.416A>G	ENSP00000508203.1:n.416A>G
ENST00000682567.1:n.464A>G
ENST00000683521.1:c.387A>G	ENSP00000506864.1:p.Glu129=
ENST00000684483.1:c.387A>G	ENSP00000507894.1:p.Glu129=
ENST00000366560.4:c.387A>G MANE Select	ENSP00000355518.4:p.Glu129=
ENST00000366560.3:c.387A>G	ENSP00000355518.3:p.Glu129=
ENST00000497042.1:n.83A>G
NM_000143.3:c.387A>G , LRG_504t1:c.387A>G	NP_000134.2:p.Glu129=
XM_011544132.1:c.159A>G	XP_011542434.1:p.Glu53=
XM_011544132.2:c.159A>G	XP_011542434.1:p.Glu53=
NM_000143.4:c.387A>G MANE Select	NP_000134.2:p.Glu129=