Canonical Allele Identifier: CA345437940

Gene: FH

Linked Data

• ClinVar Variation Id: 429174
• ClinVar RCV Id: RCV000493020 ; RCV002527073
• dbSNP Id: rs1131691238
• gnomAD v4: 1-241504056-C-T
• MyVariant Identifiers: chr1:g.241667356C>T (hg19) ; chr1:g.241504056C>T (hg38)
• PubMed: PMID:22561013 ; PMID:24419633

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504056C>T , CM000663.2:g.241504056C>T	GRCh38
NC_000001.10:g.241667356C>T , CM000663.1:g.241667356C>T	GRCh37
NC_000001.9:g.239733979C>T	NCBI36
NG_012338.1:g.20699G>A , LRG_504:g.20699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1597G>A
ENST00000682162.1:c.1123G>A	ENSP00000508203.1:n.1123G>A
ENST00000682567.1:n.1171G>A
ENST00000683521.1:c.1094G>A	ENSP00000506864.1:p.Ser365Asn
ENST00000684161.1:n.2309G>A
ENST00000684483.1:c.*490G>A	ENSP00000507894.1:n.*490G>A
ENST00000366560.4:c.1094G>A MANE Select	ENSP00000355518.4:p.Ser365Asn
ENST00000366560.3:c.1094G>A	ENSP00000355518.3:p.Ser365Asn
NM_000143.3:c.1094G>A , LRG_504t1:c.1094G>A	NP_000134.2:p.Ser365Asn
XM_011544132.1:c.866G>A	XP_011542434.1:p.Ser289Asn
XM_011544132.2:c.866G>A	XP_011542434.1:p.Ser289Asn
NM_000143.4:c.1094G>A MANE Select	NP_000134.2:p.Ser365Asn