Canonical Allele Identifier: CA528534051

Gene: CFH

Linked Data

• dbSNP Id: rs1252986331
• gnomAD v2: 1-196709942-A-G
• gnomAD v4: 1-196740812-A-G
• MyVariant Identifiers: chr1:g.196709942A>G (hg19) ; chr1:g.196740812A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196740812A>G , CM000663.2:g.196740812A>G	GRCh38
NC_000001.10:g.196709942A>G , CM000663.1:g.196709942A>G	GRCh37
NC_000001.9:g.194976565A>G	NCBI36
NG_007259.1:g.93802A>G , LRG_47:g.93802A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.3242A>G
ENST00000695970.1:c.2783-1063A>G	ENSP00000512297.1:n.2783-1063A>G
ENST00000695971.1:c.2935+20A>G	ENSP00000512298.1:n.2935+20A>G
ENST00000695972.1:c.*33+20A>G	ENSP00000512299.1:n.*33+20A>G
ENST00000695973.1:c.*1320+20A>G	ENSP00000512300.1:n.*1320+20A>G
ENST00000695974.1:c.2779+20A>G	ENSP00000512301.1:n.2779+20A>G
ENST00000695975.1:c.*1083+20A>G	ENSP00000512302.1:n.*1083+20A>G
ENST00000695976.1:c.2767+20A>G	ENSP00000512303.1:n.2767+20A>G
ENST00000695981.1:c.2956+20A>G	ENSP00000512306.1:n.2956+20A>G
ENST00000695983.1:c.2862+114A>G	ENSP00000512308.1:n.2862+114A>G
ENST00000695984.1:c.964+20A>G	ENSP00000512309.1:n.964+20A>G
ENST00000695986.1:c.*2607+20A>G	ENSP00000512311.1:n.*2607+20A>G
ENST00000696025.1:n.3060A>G
ENST00000696026.1:c.*1238+20A>G	ENSP00000512335.1:n.*1238+20A>G
ENST00000696027.1:c.2950+20A>G	ENSP00000512336.1:n.2950+20A>G
ENST00000696028.1:c.2884+92A>G	ENSP00000512337.1:n.2884+92A>G
ENST00000696029.1:c.2956+20A>G	ENSP00000512338.1:n.2956+20A>G
ENST00000696031.1:c.*2474+20A>G	ENSP00000512340.1:n.*2474+20A>G
ENST00000696032.1:c.2956+20A>G	ENSP00000512341.1:n.2956+20A>G
ENST00000696033.1:c.1160-38985A>G	ENSP00000512342.1:n.1160-38985A>G
ENST00000367429.9:c.2956+20A>G MANE Select	ENSP00000356399.4:n.2956+20A>G
ENST00000367429.8:c.2956+20A>G	ENSP00000356399.4:n.2956+20A>G
ENST00000466229.5:n.4992A>G
ENST00000470918.1:n.479A>G
NM_000186.3:c.2956+20A>G , LRG_47t1:c.2956+20A>G	NP_000177.2:n.2956+20A>G
XR_001737134.2:n.3142+20A>G
NM_000186.4:c.2956+20A>G MANE Select	NP_000177.2:n.2956+20A>G