Canonical Allele Identifier: CA189211

Gene: FH

Linked Data

• ClinVar Variation Id: 42094
• ClinVar RCV Id: RCV000034920 ; RCV000163798 ; RCV000199873 ; RCV001762109 ; RCV002280864
• dbSNP Id: rs200796606
• ExAC: 1:241665852 T / G
• gnomAD v2: 1-241665852-T-G
• gnomAD v3: 1-241502552-T-G
• gnomAD v4: 1-241502552-T-G
• MyVariant Identifiers: chr1:g.241665852T>G (hg19) ; chr1:g.241502552T>G (hg38)
• PubMed: PMID:10896297 ; PMID:15221078 ; PMID:16876016 ; PMID:18313410 ; PMID:19151755 ; PMID:20301679 ; PMID:21445611 ; PMID:25637381 ; PMID:28747166

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502552T>G , CM000663.2:g.241502552T>G	GRCh38
NC_000001.10:g.241665852T>G , CM000663.1:g.241665852T>G	GRCh37
NC_000001.9:g.239732475T>G	NCBI36
NG_012338.1:g.22203A>C , LRG_504:g.22203A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1630A>C
ENST00000682162.1:c.1156A>C	ENSP00000508203.1:n.1156A>C
ENST00000682567.1:n.2675A>C
ENST00000683521.1:c.1127A>C	ENSP00000506864.1:p.Gln376Pro
ENST00000684161.1:n.2342A>C
ENST00000684483.1:c.*523A>C	ENSP00000507894.1:n.*523A>C
ENST00000366560.4:c.1127A>C MANE Select	ENSP00000355518.4:p.Gln376Pro
ENST00000366560.3:c.1127A>C	ENSP00000355518.3:p.Gln376Pro
NM_000143.3:c.1127A>C , LRG_504t1:c.1127A>C	NP_000134.2:p.Gln376Pro
XM_011544132.1:c.899A>C	XP_011542434.1:p.Gln300Pro
XM_011544132.2:c.899A>C	XP_011542434.1:p.Gln300Pro
NM_000143.4:c.1127A>C MANE Select	NP_000134.2:p.Gln376Pro