Canonical Allele Identifier: CA343987504

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716303A>G (hg19) ; chr1:g.196747173A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747173A>G , CM000663.2:g.196747173A>G	GRCh38
NC_000001.10:g.196716303A>G , CM000663.1:g.196716303A>G	GRCh37
NC_000001.9:g.194982926A>G	NCBI36
NG_007259.1:g.100163A>G , LRG_47:g.100163A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4584A>G
ENST00000695970.1:c.3382A>G	ENSP00000512297.1:p.Lys1128Glu
ENST00000695971.1:c.3535A>G	ENSP00000512298.1:p.Lys1179Glu
ENST00000695972.1:c.*633A>G	ENSP00000512299.1:n.*633A>G
ENST00000695973.1:c.*1920A>G	ENSP00000512300.1:n.*1920A>G
ENST00000695974.1:c.3379A>G	ENSP00000512301.1:p.Lys1127Glu
ENST00000695975.1:c.*1683A>G	ENSP00000512302.1:n.*1683A>G
ENST00000695976.1:c.3367A>G	ENSP00000512303.1:p.Lys1123Glu
ENST00000695981.1:c.3556A>G	ENSP00000512306.1:p.Lys1186Glu
ENST00000695984.1:c.1564A>G	ENSP00000512309.1:p.Lys522Glu
ENST00000695986.1:c.*3207A>G	ENSP00000512311.1:n.*3207A>G
ENST00000695990.1:n.590A>G
ENST00000696026.1:c.*1838A>G	ENSP00000512335.1:n.*1838A>G
ENST00000696027.1:c.3550A>G	ENSP00000512336.1:p.Lys1184Glu
ENST00000696028.1:c.3484A>G	ENSP00000512337.1:p.Lys1162Glu
ENST00000696029.1:c.3550A>G	ENSP00000512338.1:p.Lys1184Glu
ENST00000696031.1:c.*3074A>G	ENSP00000512340.1:n.*3074A>G
ENST00000696032.1:c.3556A>G	ENSP00000512341.1:p.Lys1186Glu
ENST00000696033.1:c.1160-32624A>G	ENSP00000512342.1:n.1160-32624A>G
ENST00000367429.9:c.3556A>G MANE Select	ENSP00000356399.4:p.Lys1186Glu
ENST00000367429.8:c.3556A>G	ENSP00000356399.4:p.Lys1186Glu
ENST00000466229.5:n.6654A>G
NM_000186.3:c.3556A>G , LRG_47t1:c.3556A>G	NP_000177.2:p.Lys1186Glu
XR_001737134.2:n.3742A>G
NM_000186.4:c.3556A>G MANE Select	NP_000177.2:p.Lys1186Glu