Canonical Allele Identifier: CA1478528

Gene: FH

Linked Data

• dbSNP Id: rs767500963
• ExAC: 1:241665760 C / A
• gnomAD v2: 1-241665760-C-A
• MyVariant Identifiers: chr1:g.241665760C>A (hg19) ; chr1:g.241502460C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502460C>A , CM000663.2:g.241502460C>A	GRCh38
NC_000001.10:g.241665760C>A , CM000663.1:g.241665760C>A	GRCh37
NC_000001.9:g.239732383C>A	NCBI36
NG_012338.1:g.22295G>T , LRG_504:g.22295G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1722G>T
ENST00000682162.1:c.1248G>T	ENSP00000508203.1:n.1248G>T
ENST00000682567.1:n.2767G>T
ENST00000683521.1:c.1219G>T	ENSP00000506864.1:p.Val407Phe
ENST00000684161.1:n.2434G>T
ENST00000684483.1:c.*615G>T	ENSP00000507894.1:n.*615G>T
ENST00000366560.4:c.1219G>T MANE Select	ENSP00000355518.4:p.Val407Phe
ENST00000366560.3:c.1219G>T	ENSP00000355518.3:p.Val407Phe
NM_000143.3:c.1219G>T , LRG_504t1:c.1219G>T	NP_000134.2:p.Val407Phe
XM_011544132.1:c.991G>T	XP_011542434.1:p.Val331Phe
XM_011544132.2:c.991G>T	XP_011542434.1:p.Val331Phe
NM_000143.4:c.1219G>T MANE Select	NP_000134.2:p.Val407Phe