Canonical Allele Identifier: CA424076626

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241680605A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517305A>G , CM000663.2:g.241517305A>G	GRCh38
NC_000001.10:g.241680605A>G , CM000663.1:g.241680605A>G	GRCh37
NC_000001.9:g.239747228A>G	NCBI36
NG_012338.1:g.7450T>C , LRG_504:g.7450T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.647T>C
ENST00000682162.1:c.173T>C	ENSP00000508203.1:p.Ile58Thr
ENST00000682567.1:n.221T>C
ENST00000683521.1:c.144T>C	ENSP00000506864.1:p.Asn48=
ENST00000684483.1:c.144T>C	ENSP00000507894.1:p.Asn48=
ENST00000366560.4:c.144T>C MANE Select	ENSP00000355518.4:p.Asn48=
ENST00000366560.3:c.144T>C	ENSP00000355518.3:p.Asn48=
ENST00000493477.1:n.257T>C
NM_000143.3:c.144T>C , LRG_504t1:c.144T>C	NP_000134.2:p.Asn48=
XM_011544132.1:c.-85T>C	XP_011542434.1:n.-85T>C
XM_011544132.2:c.-85T>C	XP_011542434.1:n.-85T>C
NM_000143.4:c.144T>C MANE Select	NP_000134.2:p.Asn48=