Canonical Allele Identifier: CA345440103

Gene: FH

Linked Data

• dbSNP Id: rs2147921918
• MyVariant Identifiers: chr1:g.241675382G>T (hg19) ; chr1:g.241512082G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512082G>T , CM000663.2:g.241512082G>T	GRCh38
NC_000001.10:g.241675382G>T , CM000663.1:g.241675382G>T	GRCh37
NC_000001.9:g.239742005G>T	NCBI36
NG_012338.1:g.12673C>A , LRG_504:g.12673C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.943C>A
ENST00000682162.1:c.469C>A	ENSP00000508203.1:n.469C>A
ENST00000682567.1:n.517C>A
ENST00000683521.1:c.440C>A	ENSP00000506864.1:p.Thr147Asn
ENST00000684483.1:c.440C>A	ENSP00000507894.1:p.Thr147Asn
ENST00000366560.4:c.440C>A MANE Select	ENSP00000355518.4:p.Thr147Asn
ENST00000366560.3:c.440C>A	ENSP00000355518.3:p.Thr147Asn
ENST00000497042.1:n.136C>A
NM_000143.3:c.440C>A , LRG_504t1:c.440C>A	NP_000134.2:p.Thr147Asn
XM_011544132.1:c.212C>A	XP_011542434.1:p.Thr71Asn
XM_011544132.2:c.212C>A	XP_011542434.1:p.Thr71Asn
NM_000143.4:c.440C>A MANE Select	NP_000134.2:p.Thr147Asn