Canonical Allele Identifier: CA1478570

Gene: FH

Linked Data

• ClinVar Variation Id: 237119
• ClinVar RCV Id: RCV000230405 ; RCV001589168 ; RCV002372248 ; RCV002487046
• dbSNP Id: rs756528378
• ExAC: 1:241667524 G / A
• gnomAD v2: 1-241667524-G-A
• gnomAD v3: 1-241504224-G-A
• gnomAD v4: 1-241504224-G-A
• MyVariant Identifiers: chr1:g.241667524G>A (hg19) ; chr1:g.241504224G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504224G>A , CM000663.2:g.241504224G>A	GRCh38
NC_000001.10:g.241667524G>A , CM000663.1:g.241667524G>A	GRCh37
NC_000001.9:g.239734147G>A	NCBI36
NG_012338.1:g.20531C>T , LRG_504:g.20531C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1429C>T
ENST00000682162.1:c.955C>T	ENSP00000508203.1:n.955C>T
ENST00000682567.1:n.1003C>T
ENST00000683521.1:c.926C>T	ENSP00000506864.1:p.Pro309Leu
ENST00000684161.1:n.2141C>T
ENST00000684483.1:c.*322C>T	ENSP00000507894.1:n.*322C>T
ENST00000366560.4:c.926C>T MANE Select	ENSP00000355518.4:p.Pro309Leu
ENST00000366560.3:c.926C>T	ENSP00000355518.3:p.Pro309Leu
NM_000143.3:c.926C>T , LRG_504t1:c.926C>T	NP_000134.2:p.Pro309Leu
XM_011544132.1:c.698C>T	XP_011542434.1:p.Pro233Leu
XM_011544132.2:c.698C>T	XP_011542434.1:p.Pro233Leu
NM_000143.4:c.926C>T MANE Select	NP_000134.2:p.Pro309Leu