Canonical Allele Identifier: CA345436870

Gene: FH

Linked Data

• dbSNP Id: rs2147913331
• gnomAD v4: 1-241500569-C-T
• MyVariant Identifiers: chr1:g.241663869C>T (hg19) ; chr1:g.241500569C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500569C>T , CM000663.2:g.241500569C>T	GRCh38
NC_000001.10:g.241663869C>T , CM000663.1:g.241663869C>T	GRCh37
NC_000001.9:g.239730492C>T	NCBI36
NG_012338.1:g.24186G>A , LRG_504:g.24186G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1761G>A
ENST00000682162.1:c.1287G>A	ENSP00000508203.1:n.1287G>A
ENST00000682567.1:n.4658G>A
ENST00000683521.1:c.1258G>A	ENSP00000506864.1:p.Ala420Thr
ENST00000684161.1:n.2473G>A
ENST00000684483.1:c.*654G>A	ENSP00000507894.1:n.*654G>A
ENST00000366560.4:c.1258G>A MANE Select	ENSP00000355518.4:p.Ala420Thr
ENST00000366560.3:c.1258G>A	ENSP00000355518.3:p.Ala420Thr
NM_000143.3:c.1258G>A , LRG_504t1:c.1258G>A	NP_000134.2:p.Ala420Thr
XM_011544132.1:c.1030G>A	XP_011542434.1:p.Ala344Thr
XM_011544132.2:c.1030G>A	XP_011542434.1:p.Ala344Thr
NM_000143.4:c.1258G>A MANE Select	NP_000134.2:p.Ala420Thr