Canonical Allele Identifier: CA1478571

Gene: FH

Linked Data

• ClinVar Variation Id: 405930
• ClinVar RCV Id: RCV000571863 ; RCV001591074
• dbSNP Id: rs368849989
• ExAC: 1:241667525 G / A
• gnomAD v2: 1-241667525-G-A
• gnomAD v3: 1-241504225-G-A
• gnomAD v4: 1-241504225-G-A
• MyVariant Identifiers: chr1:g.241667525G>A (hg19) ; chr1:g.241504225G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504225G>A , CM000663.2:g.241504225G>A	GRCh38
NC_000001.10:g.241667525G>A , CM000663.1:g.241667525G>A	GRCh37
NC_000001.9:g.239734148G>A	NCBI36
NG_012338.1:g.20530C>T , LRG_504:g.20530C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1428C>T
ENST00000682162.1:c.954C>T	ENSP00000508203.1:n.954C>T
ENST00000682567.1:n.1002C>T
ENST00000683521.1:c.925C>T	ENSP00000506864.1:p.Pro309Ser
ENST00000684161.1:n.2140C>T
ENST00000684483.1:c.*321C>T	ENSP00000507894.1:n.*321C>T
ENST00000366560.4:c.925C>T MANE Select	ENSP00000355518.4:p.Pro309Ser
ENST00000366560.3:c.925C>T	ENSP00000355518.3:p.Pro309Ser
NM_000143.3:c.925C>T , LRG_504t1:c.925C>T	NP_000134.2:p.Pro309Ser
XM_011544132.1:c.697C>T	XP_011542434.1:p.Pro233Ser
XM_011544132.2:c.697C>T	XP_011542434.1:p.Pro233Ser
NM_000143.4:c.925C>T MANE Select	NP_000134.2:p.Pro309Ser