Canonical Allele Identifier: CA343983330

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712639T>G (hg19) ; chr1:g.196743509T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743509T>G , CM000663.2:g.196743509T>G	GRCh38
NC_000001.10:g.196712639T>G , CM000663.1:g.196712639T>G	GRCh37
NC_000001.9:g.194979262T>G	NCBI36
NG_007259.1:g.96499T>G , LRG_47:g.96499T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4219T>G
ENST00000695970.1:c.3017T>G	ENSP00000512297.1:p.Met1006Arg
ENST00000695971.1:c.3170T>G	ENSP00000512298.1:p.Met1057Arg
ENST00000695972.1:c.*268T>G	ENSP00000512299.1:n.*268T>G
ENST00000695973.1:c.*1555T>G	ENSP00000512300.1:n.*1555T>G
ENST00000695974.1:c.3014T>G	ENSP00000512301.1:p.Met1005Arg
ENST00000695975.1:c.*1318T>G	ENSP00000512302.1:n.*1318T>G
ENST00000695976.1:c.3002T>G	ENSP00000512303.1:p.Met1001Arg
ENST00000695981.1:c.3191T>G	ENSP00000512306.1:p.Met1064Arg
ENST00000695984.1:c.1199T>G	ENSP00000512309.1:p.Met400Arg
ENST00000695986.1:c.*2842T>G	ENSP00000512311.1:n.*2842T>G
ENST00000696026.1:c.*1473T>G	ENSP00000512335.1:n.*1473T>G
ENST00000696027.1:c.3185T>G	ENSP00000512336.1:p.Met1062Arg
ENST00000696028.1:c.3119T>G	ENSP00000512337.1:p.Met1040Arg
ENST00000696029.1:c.3185T>G	ENSP00000512338.1:p.Met1062Arg
ENST00000696031.1:c.*2709T>G	ENSP00000512340.1:n.*2709T>G
ENST00000696032.1:c.3191T>G	ENSP00000512341.1:p.Met1064Arg
ENST00000696033.1:c.1160-36288T>G	ENSP00000512342.1:n.1160-36288T>G
ENST00000367429.9:c.3191T>G MANE Select	ENSP00000356399.4:p.Met1064Arg
ENST00000367429.8:c.3191T>G	ENSP00000356399.4:p.Met1064Arg
ENST00000466229.5:n.6289T>G
NM_000186.3:c.3191T>G , LRG_47t1:c.3191T>G	NP_000177.2:p.Met1064Arg
XR_001737134.2:n.3377T>G
NM_000186.4:c.3191T>G MANE Select	NP_000177.2:p.Met1064Arg