Canonical Allele Identifier: CA257510

Gene: CFH

Linked Data

• ClinVar Variation Id: 16553
• ClinVar RCV Id: RCV000018020
• dbSNP Id: rs121913057
• MyVariant Identifiers: chr1:g.196706705T>A (hg19) ; chr1:g.196737575T>A (hg38)
• PubMed: PMID:9848786 ; PMID:14978182

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196737575T>A , CM000663.2:g.196737575T>A	GRCh38
NC_000001.10:g.196706705T>A , CM000663.1:g.196706705T>A	GRCh37
NC_000001.9:g.194973328T>A	NCBI36
NG_007259.1:g.90565T>A , LRG_47:g.90565T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.2963T>A
ENST00000695969.1:c.2697T>A	ENSP00000512296.1:p.Tyr899Ter
ENST00000695970.1:c.2697T>A	ENSP00000512297.1:p.Tyr899Ter
ENST00000695971.1:c.2676T>A	ENSP00000512298.1:p.Tyr892Ter
ENST00000695972.1:c.2233-3089T>A	ENSP00000512299.1:n.2233-3089T>A
ENST00000695973.1:c.*1061T>A	ENSP00000512300.1:n.*1061T>A
ENST00000695974.1:c.2520T>A	ENSP00000512301.1:p.Tyr840Ter
ENST00000695975.1:c.*824T>A	ENSP00000512302.1:n.*824T>A
ENST00000695976.1:c.2508T>A	ENSP00000512303.1:p.Tyr836Ter
ENST00000695981.1:c.2697T>A	ENSP00000512306.1:p.Tyr899Ter
ENST00000695983.1:c.2697T>A	ENSP00000512308.1:p.Tyr899Ter
ENST00000695984.1:c.705T>A	ENSP00000512309.1:p.Tyr235Ter
ENST00000695986.1:c.*2348T>A	ENSP00000512311.1:n.*2348T>A
ENST00000696025.1:n.2781T>A
ENST00000696026.1:c.*979T>A	ENSP00000512335.1:n.*979T>A
ENST00000696027.1:c.2691T>A	ENSP00000512336.1:p.Tyr897Ter
ENST00000696028.1:c.2697T>A	ENSP00000512337.1:p.Tyr899Ter
ENST00000696029.1:c.2697T>A	ENSP00000512338.1:p.Tyr899Ter
ENST00000696031.1:c.*2215T>A	ENSP00000512340.1:n.*2215T>A
ENST00000696032.1:c.2697T>A	ENSP00000512341.1:p.Tyr899Ter
ENST00000696033.1:c.1160-42222T>A	ENSP00000512342.1:n.1160-42222T>A
ENST00000367429.9:c.2697T>A MANE Select	ENSP00000356399.4:p.Tyr899Ter
ENST00000367429.8:c.2697T>A	ENSP00000356399.4:p.Tyr899Ter
ENST00000466229.5:n.4713T>A
ENST00000470918.1:n.200T>A
NM_000186.3:c.2697T>A , LRG_47t1:c.2697T>A	NP_000177.2:p.Tyr899Ter
XR_001737134.2:n.2883T>A
NM_000186.4:c.2697T>A MANE Select	NP_000177.2:p.Tyr899Ter