Canonical Allele Identifier: CA343983522

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712662A>T (hg19) ; chr1:g.196743532A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743532A>T , CM000663.2:g.196743532A>T	GRCh38
NC_000001.10:g.196712662A>T , CM000663.1:g.196712662A>T	GRCh37
NC_000001.9:g.194979285A>T	NCBI36
NG_007259.1:g.96522A>T , LRG_47:g.96522A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4242A>T
ENST00000695970.1:c.3040A>T	ENSP00000512297.1:p.Arg1014Ter
ENST00000695971.1:c.3193A>T	ENSP00000512298.1:p.Arg1065Ter
ENST00000695972.1:c.*291A>T	ENSP00000512299.1:n.*291A>T
ENST00000695973.1:c.*1578A>T	ENSP00000512300.1:n.*1578A>T
ENST00000695974.1:c.3037A>T	ENSP00000512301.1:p.Arg1013Ter
ENST00000695975.1:c.*1341A>T	ENSP00000512302.1:n.*1341A>T
ENST00000695976.1:c.3025A>T	ENSP00000512303.1:p.Arg1009Ter
ENST00000695981.1:c.3214A>T	ENSP00000512306.1:p.Arg1072Ter
ENST00000695984.1:c.1222A>T	ENSP00000512309.1:p.Arg408Ter
ENST00000695986.1:c.*2865A>T	ENSP00000512311.1:n.*2865A>T
ENST00000696026.1:c.*1496A>T	ENSP00000512335.1:n.*1496A>T
ENST00000696027.1:c.3208A>T	ENSP00000512336.1:p.Arg1070Ter
ENST00000696028.1:c.3142A>T	ENSP00000512337.1:p.Arg1048Ter
ENST00000696029.1:c.3208A>T	ENSP00000512338.1:p.Arg1070Ter
ENST00000696031.1:c.*2732A>T	ENSP00000512340.1:n.*2732A>T
ENST00000696032.1:c.3214A>T	ENSP00000512341.1:p.Arg1072Ter
ENST00000696033.1:c.1160-36265A>T	ENSP00000512342.1:n.1160-36265A>T
ENST00000367429.9:c.3214A>T MANE Select	ENSP00000356399.4:p.Arg1072Ter
ENST00000367429.8:c.3214A>T	ENSP00000356399.4:p.Arg1072Ter
ENST00000466229.5:n.6312A>T
NM_000186.3:c.3214A>T , LRG_47t1:c.3214A>T	NP_000177.2:p.Arg1072Ter
XR_001737134.2:n.3400A>T
NM_000186.4:c.3214A>T MANE Select	NP_000177.2:p.Arg1072Ter