Canonical Allele Identifier: CA343983441

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712651C>A (hg19) ; chr1:g.196743521C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743521C>A , CM000663.2:g.196743521C>A	GRCh38
NC_000001.10:g.196712651C>A , CM000663.1:g.196712651C>A	GRCh37
NC_000001.9:g.194979274C>A	NCBI36
NG_007259.1:g.96511C>A , LRG_47:g.96511C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4231C>A
ENST00000695970.1:c.3029C>A	ENSP00000512297.1:p.Pro1010Gln
ENST00000695971.1:c.3182C>A	ENSP00000512298.1:p.Pro1061Gln
ENST00000695972.1:c.*280C>A	ENSP00000512299.1:n.*280C>A
ENST00000695973.1:c.*1567C>A	ENSP00000512300.1:n.*1567C>A
ENST00000695974.1:c.3026C>A	ENSP00000512301.1:p.Pro1009Gln
ENST00000695975.1:c.*1330C>A	ENSP00000512302.1:n.*1330C>A
ENST00000695976.1:c.3014C>A	ENSP00000512303.1:p.Pro1005Gln
ENST00000695981.1:c.3203C>A	ENSP00000512306.1:p.Pro1068Gln
ENST00000695984.1:c.1211C>A	ENSP00000512309.1:p.Pro404Gln
ENST00000695986.1:c.*2854C>A	ENSP00000512311.1:n.*2854C>A
ENST00000696026.1:c.*1485C>A	ENSP00000512335.1:n.*1485C>A
ENST00000696027.1:c.3197C>A	ENSP00000512336.1:p.Pro1066Gln
ENST00000696028.1:c.3131C>A	ENSP00000512337.1:p.Pro1044Gln
ENST00000696029.1:c.3197C>A	ENSP00000512338.1:p.Pro1066Gln
ENST00000696031.1:c.*2721C>A	ENSP00000512340.1:n.*2721C>A
ENST00000696032.1:c.3203C>A	ENSP00000512341.1:p.Pro1068Gln
ENST00000696033.1:c.1160-36276C>A	ENSP00000512342.1:n.1160-36276C>A
ENST00000367429.9:c.3203C>A MANE Select	ENSP00000356399.4:p.Pro1068Gln
ENST00000367429.8:c.3203C>A	ENSP00000356399.4:p.Pro1068Gln
ENST00000466229.5:n.6301C>A
NM_000186.3:c.3203C>A , LRG_47t1:c.3203C>A	NP_000177.2:p.Pro1068Gln
XR_001737134.2:n.3389C>A
NM_000186.4:c.3203C>A MANE Select	NP_000177.2:p.Pro1068Gln