Canonical Allele Identifier: CA1478468

Gene: FH

Linked Data

• dbSNP Id: rs764801019
• ExAC: 1:241663739 A / G
• gnomAD v2: 1-241663739-A-G
• gnomAD v4: 1-241500439-A-G
• MyVariant Identifiers: chr1:g.241663739A>G (hg19) ; chr1:g.241500439A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500439A>G , CM000663.2:g.241500439A>G	GRCh38
NC_000001.10:g.241663739A>G , CM000663.1:g.241663739A>G	GRCh37
NC_000001.9:g.239730362A>G	NCBI36
NG_012338.1:g.24316T>C , LRG_504:g.24316T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1891T>C
ENST00000682162.1:c.1417T>C	ENSP00000508203.1:n.1417T>C
ENST00000682567.1:n.4788T>C
ENST00000683521.1:c.1388T>C	ENSP00000506864.1:p.Ile463Thr
ENST00000684161.1:n.2603T>C
ENST00000684483.1:c.*784T>C	ENSP00000507894.1:n.*784T>C
ENST00000366560.4:c.1388T>C MANE Select	ENSP00000355518.4:p.Ile463Thr
ENST00000366560.3:c.1388T>C	ENSP00000355518.3:p.Ile463Thr
NM_000143.3:c.1388T>C , LRG_504t1:c.1388T>C	NP_000134.2:p.Ile463Thr
XM_011544132.1:c.1160T>C	XP_011542434.1:p.Ile387Thr
XM_011544132.2:c.1160T>C	XP_011542434.1:p.Ile387Thr
NM_000143.4:c.1388T>C MANE Select	NP_000134.2:p.Ile463Thr