Canonical Allele Identifier: CA343981311

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196709924T>G (hg19) ; chr1:g.196740794T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196740794T>G , CM000663.2:g.196740794T>G	GRCh38
NC_000001.10:g.196709924T>G , CM000663.1:g.196709924T>G	GRCh37
NC_000001.9:g.194976547T>G	NCBI36
NG_007259.1:g.93784T>G , LRG_47:g.93784T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.3224T>G
ENST00000695970.1:c.2783-1081T>G	ENSP00000512297.1:n.2783-1081T>G
ENST00000695971.1:c.2935+2T>G	ENSP00000512298.1:n.2935+2T>G
ENST00000695972.1:c.*33+2T>G	ENSP00000512299.1:n.*33+2T>G
ENST00000695973.1:c.*1320+2T>G	ENSP00000512300.1:n.*1320+2T>G
ENST00000695974.1:c.2779+2T>G	ENSP00000512301.1:n.2779+2T>G
ENST00000695975.1:c.*1083+2T>G	ENSP00000512302.1:n.*1083+2T>G
ENST00000695976.1:c.2767+2T>G	ENSP00000512303.1:n.2767+2T>G
ENST00000695981.1:c.2956+2T>G	ENSP00000512306.1:n.2956+2T>G
ENST00000695983.1:c.2862+96T>G	ENSP00000512308.1:n.2862+96T>G
ENST00000695984.1:c.964+2T>G	ENSP00000512309.1:n.964+2T>G
ENST00000695986.1:c.*2607+2T>G	ENSP00000512311.1:n.*2607+2T>G
ENST00000696025.1:n.3042T>G
ENST00000696026.1:c.*1238+2T>G	ENSP00000512335.1:n.*1238+2T>G
ENST00000696027.1:c.2950+2T>G	ENSP00000512336.1:n.2950+2T>G
ENST00000696028.1:c.2884+74T>G	ENSP00000512337.1:n.2884+74T>G
ENST00000696029.1:c.2956+2T>G	ENSP00000512338.1:n.2956+2T>G
ENST00000696031.1:c.*2474+2T>G	ENSP00000512340.1:n.*2474+2T>G
ENST00000696032.1:c.2956+2T>G	ENSP00000512341.1:n.2956+2T>G
ENST00000696033.1:c.1160-39003T>G	ENSP00000512342.1:n.1160-39003T>G
ENST00000367429.9:c.2956+2T>G MANE Select	ENSP00000356399.4:n.2956+2T>G
ENST00000367429.8:c.2956+2T>G	ENSP00000356399.4:n.2956+2T>G
ENST00000466229.5:n.4974T>G
ENST00000470918.1:n.461T>G
NM_000186.3:c.2956+2T>G , LRG_47t1:c.2956+2T>G	NP_000177.2:n.2956+2T>G
XR_001737134.2:n.3142+2T>G
NM_000186.4:c.2956+2T>G MANE Select	NP_000177.2:n.2956+2T>G