Canonical Allele Identifier: CA422662875

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712628G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743498G>A , CM000663.2:g.196743498G>A	GRCh38
NC_000001.10:g.196712628G>A , CM000663.1:g.196712628G>A	GRCh37
NC_000001.9:g.194979251G>A	NCBI36
NG_007259.1:g.96488G>A , LRG_47:g.96488G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4208G>A
ENST00000695970.1:c.3006G>A	ENSP00000512297.1:p.Val1002=
ENST00000695971.1:c.3159G>A	ENSP00000512298.1:p.Val1053=
ENST00000695972.1:c.*257G>A	ENSP00000512299.1:n.*257G>A
ENST00000695973.1:c.*1544G>A	ENSP00000512300.1:n.*1544G>A
ENST00000695974.1:c.3003G>A	ENSP00000512301.1:p.Val1001=
ENST00000695975.1:c.*1307G>A	ENSP00000512302.1:n.*1307G>A
ENST00000695976.1:c.2991G>A	ENSP00000512303.1:p.Val997=
ENST00000695981.1:c.3180G>A	ENSP00000512306.1:p.Val1060=
ENST00000695984.1:c.1188G>A	ENSP00000512309.1:p.Val396=
ENST00000695986.1:c.*2831G>A	ENSP00000512311.1:n.*2831G>A
ENST00000696026.1:c.*1462G>A	ENSP00000512335.1:n.*1462G>A
ENST00000696027.1:c.3174G>A	ENSP00000512336.1:p.Val1058=
ENST00000696028.1:c.3108G>A	ENSP00000512337.1:p.Val1036=
ENST00000696029.1:c.3174G>A	ENSP00000512338.1:p.Val1058=
ENST00000696031.1:c.*2698G>A	ENSP00000512340.1:n.*2698G>A
ENST00000696032.1:c.3180G>A	ENSP00000512341.1:p.Val1060=
ENST00000696033.1:c.1160-36299G>A	ENSP00000512342.1:n.1160-36299G>A
ENST00000367429.9:c.3180G>A MANE Select	ENSP00000356399.4:p.Val1060=
ENST00000367429.8:c.3180G>A	ENSP00000356399.4:p.Val1060=
ENST00000466229.5:n.6278G>A
NM_000186.3:c.3180G>A , LRG_47t1:c.3180G>A	NP_000177.2:p.Val1060=
XR_001737134.2:n.3366G>A
NM_000186.4:c.3180G>A MANE Select	NP_000177.2:p.Val1060=