Canonical Allele Identifier: CA343983166

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712621A>G (hg19) ; chr1:g.196743491A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743491A>G , CM000663.2:g.196743491A>G	GRCh38
NC_000001.10:g.196712621A>G , CM000663.1:g.196712621A>G	GRCh37
NC_000001.9:g.194979244A>G	NCBI36
NG_007259.1:g.96481A>G , LRG_47:g.96481A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4201A>G
ENST00000695970.1:c.2999A>G	ENSP00000512297.1:p.Tyr1000Cys
ENST00000695971.1:c.3152A>G	ENSP00000512298.1:p.Tyr1051Cys
ENST00000695972.1:c.*250A>G	ENSP00000512299.1:n.*250A>G
ENST00000695973.1:c.*1537A>G	ENSP00000512300.1:n.*1537A>G
ENST00000695974.1:c.2996A>G	ENSP00000512301.1:p.Tyr999Cys
ENST00000695975.1:c.*1300A>G	ENSP00000512302.1:n.*1300A>G
ENST00000695976.1:c.2984A>G	ENSP00000512303.1:p.Tyr995Cys
ENST00000695981.1:c.3173A>G	ENSP00000512306.1:p.Tyr1058Cys
ENST00000695984.1:c.1181A>G	ENSP00000512309.1:p.Tyr394Cys
ENST00000695986.1:c.*2824A>G	ENSP00000512311.1:n.*2824A>G
ENST00000696026.1:c.*1455A>G	ENSP00000512335.1:n.*1455A>G
ENST00000696027.1:c.3167A>G	ENSP00000512336.1:p.Tyr1056Cys
ENST00000696028.1:c.3101A>G	ENSP00000512337.1:p.Tyr1034Cys
ENST00000696029.1:c.3167A>G	ENSP00000512338.1:p.Tyr1056Cys
ENST00000696031.1:c.*2691A>G	ENSP00000512340.1:n.*2691A>G
ENST00000696032.1:c.3173A>G	ENSP00000512341.1:p.Tyr1058Cys
ENST00000696033.1:c.1160-36306A>G	ENSP00000512342.1:n.1160-36306A>G
ENST00000367429.9:c.3173A>G MANE Select	ENSP00000356399.4:p.Tyr1058Cys
ENST00000367429.8:c.3173A>G	ENSP00000356399.4:p.Tyr1058Cys
ENST00000466229.5:n.6271A>G
NM_000186.3:c.3173A>G , LRG_47t1:c.3173A>G	NP_000177.2:p.Tyr1058Cys
XR_001737134.2:n.3359A>G
NM_000186.4:c.3173A>G MANE Select	NP_000177.2:p.Tyr1058Cys