Canonical Allele Identifier: CA257490

Gene: CFH

Linked Data

• ClinVar Variation Id: 16542
• ClinVar RCV Id: RCV000018008 ; RCV001328244
• dbSNP Id: rs121913051
• gnomAD v4: 1-196747260-C-G
• MyVariant Identifiers: chr1:g.196716390C>G (hg19) ; chr1:g.196747260C>G (hg38)
• PubMed: PMID:646435 ; PMID:9551389 ; PMID:11170896 ; PMID:12697737

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747260C>G , CM000663.2:g.196747260C>G	GRCh38
NC_000001.10:g.196716390C>G , CM000663.1:g.196716390C>G	GRCh37
NC_000001.9:g.194983013C>G	NCBI36
NG_007259.1:g.100250C>G , LRG_47:g.100250C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4671C>G
ENST00000695970.1:c.3469C>G	ENSP00000512297.1:p.Arg1157Gly
ENST00000695971.1:c.3622C>G	ENSP00000512298.1:p.Arg1208Gly
ENST00000695972.1:c.*720C>G	ENSP00000512299.1:n.*720C>G
ENST00000695973.1:c.*2007C>G	ENSP00000512300.1:n.*2007C>G
ENST00000695974.1:c.3466C>G	ENSP00000512301.1:p.Arg1156Gly
ENST00000695975.1:c.*1770C>G	ENSP00000512302.1:n.*1770C>G
ENST00000695976.1:c.3454C>G	ENSP00000512303.1:p.Arg1152Gly
ENST00000695981.1:c.3580+63C>G	ENSP00000512306.1:n.3580+63C>G
ENST00000695984.1:c.1651C>G	ENSP00000512309.1:p.Arg551Gly
ENST00000695986.1:c.*3294C>G	ENSP00000512311.1:n.*3294C>G
ENST00000695990.1:n.677C>G
ENST00000696026.1:c.*1925C>G	ENSP00000512335.1:n.*1925C>G
ENST00000696027.1:c.3637C>G	ENSP00000512336.1:p.Arg1213Gly
ENST00000696028.1:c.3571C>G	ENSP00000512337.1:p.Arg1191Gly
ENST00000696029.1:c.3637C>G	ENSP00000512338.1:p.Arg1213Gly
ENST00000696031.1:c.*3161C>G	ENSP00000512340.1:n.*3161C>G
ENST00000696032.1:c.3580+63C>G	ENSP00000512341.1:n.3580+63C>G
ENST00000696033.1:c.1160-32537C>G	ENSP00000512342.1:n.1160-32537C>G
ENST00000367429.9:c.3643C>G MANE Select	ENSP00000356399.4:p.Arg1215Gly
ENST00000367429.8:c.3643C>G	ENSP00000356399.4:p.Arg1215Gly
ENST00000466229.5:n.6741C>G
NM_000186.3:c.3643C>G , LRG_47t1:c.3643C>G	NP_000177.2:p.Arg1215Gly
XR_001737134.2:n.3829C>G
NM_000186.4:c.3643C>G MANE Select	NP_000177.2:p.Arg1215Gly