Canonical Allele Identifier: CA343983315

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712638A>G (hg19) ; chr1:g.196743508A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743508A>G , CM000663.2:g.196743508A>G	GRCh38
NC_000001.10:g.196712638A>G , CM000663.1:g.196712638A>G	GRCh37
NC_000001.9:g.194979261A>G	NCBI36
NG_007259.1:g.96498A>G , LRG_47:g.96498A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4218A>G
ENST00000695970.1:c.3016A>G	ENSP00000512297.1:p.Met1006Val
ENST00000695971.1:c.3169A>G	ENSP00000512298.1:p.Met1057Val
ENST00000695972.1:c.*267A>G	ENSP00000512299.1:n.*267A>G
ENST00000695973.1:c.*1554A>G	ENSP00000512300.1:n.*1554A>G
ENST00000695974.1:c.3013A>G	ENSP00000512301.1:p.Met1005Val
ENST00000695975.1:c.*1317A>G	ENSP00000512302.1:n.*1317A>G
ENST00000695976.1:c.3001A>G	ENSP00000512303.1:p.Met1001Val
ENST00000695981.1:c.3190A>G	ENSP00000512306.1:p.Met1064Val
ENST00000695984.1:c.1198A>G	ENSP00000512309.1:p.Met400Val
ENST00000695986.1:c.*2841A>G	ENSP00000512311.1:n.*2841A>G
ENST00000696026.1:c.*1472A>G	ENSP00000512335.1:n.*1472A>G
ENST00000696027.1:c.3184A>G	ENSP00000512336.1:p.Met1062Val
ENST00000696028.1:c.3118A>G	ENSP00000512337.1:p.Met1040Val
ENST00000696029.1:c.3184A>G	ENSP00000512338.1:p.Met1062Val
ENST00000696031.1:c.*2708A>G	ENSP00000512340.1:n.*2708A>G
ENST00000696032.1:c.3190A>G	ENSP00000512341.1:p.Met1064Val
ENST00000696033.1:c.1160-36289A>G	ENSP00000512342.1:n.1160-36289A>G
ENST00000367429.9:c.3190A>G MANE Select	ENSP00000356399.4:p.Met1064Val
ENST00000367429.8:c.3190A>G	ENSP00000356399.4:p.Met1064Val
ENST00000466229.5:n.6288A>G
NM_000186.3:c.3190A>G , LRG_47t1:c.3190A>G	NP_000177.2:p.Met1064Val
XR_001737134.2:n.3376A>G
NM_000186.4:c.3190A>G MANE Select	NP_000177.2:p.Met1064Val