Canonical Allele Identifier: CA1478567

Gene: FH

Linked Data

• ClinVar Variation Id: 460383
• ClinVar RCV Id: RCV001534097 ; RCV000567373
• dbSNP Id: rs146751488
• ExAC: 1:241667493 G / A
• gnomAD v2: 1-241667493-G-A
• gnomAD v3: 1-241504193-G-A
• gnomAD v4: 1-241504193-G-A
• MyVariant Identifiers: chr1:g.241667493G>A (hg19) ; chr1:g.241504193G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504193G>A , CM000663.2:g.241504193G>A	GRCh38
NC_000001.10:g.241667493G>A , CM000663.1:g.241667493G>A	GRCh37
NC_000001.9:g.239734116G>A	NCBI36
NG_012338.1:g.20562C>T , LRG_504:g.20562C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1460C>T
ENST00000682162.1:c.986C>T	ENSP00000508203.1:n.986C>T
ENST00000682567.1:n.1034C>T
ENST00000683521.1:c.957C>T	ENSP00000506864.1:p.Asp319=
ENST00000684161.1:n.2172C>T
ENST00000684483.1:c.*353C>T	ENSP00000507894.1:n.*353C>T
ENST00000366560.4:c.957C>T MANE Select	ENSP00000355518.4:p.Asp319=
ENST00000366560.3:c.957C>T	ENSP00000355518.3:p.Asp319=
NM_000143.3:c.957C>T , LRG_504t1:c.957C>T	NP_000134.2:p.Asp319=
XM_011544132.1:c.729C>T	XP_011542434.1:p.Asp243=
XM_011544132.2:c.729C>T	XP_011542434.1:p.Asp243=
NM_000143.4:c.957C>T MANE Select	NP_000134.2:p.Asp319=