Canonical Allele Identifier: CA343987066

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716264A>G (hg19) ; chr1:g.196747134A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747134A>G , CM000663.2:g.196747134A>G	GRCh38
NC_000001.10:g.196716264A>G , CM000663.1:g.196716264A>G	GRCh37
NC_000001.9:g.194982887A>G	NCBI36
NG_007259.1:g.100124A>G , LRG_47:g.100124A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4545A>G
ENST00000695970.1:c.3343A>G	ENSP00000512297.1:p.Ile1115Val
ENST00000695971.1:c.3496A>G	ENSP00000512298.1:p.Ile1166Val
ENST00000695972.1:c.*594A>G	ENSP00000512299.1:n.*594A>G
ENST00000695973.1:c.*1881A>G	ENSP00000512300.1:n.*1881A>G
ENST00000695974.1:c.3340A>G	ENSP00000512301.1:p.Ile1114Val
ENST00000695975.1:c.*1644A>G	ENSP00000512302.1:n.*1644A>G
ENST00000695976.1:c.3328A>G	ENSP00000512303.1:p.Ile1110Val
ENST00000695981.1:c.3517A>G	ENSP00000512306.1:p.Ile1173Val
ENST00000695984.1:c.1525A>G	ENSP00000512309.1:p.Ile509Val
ENST00000695986.1:c.*3168A>G	ENSP00000512311.1:n.*3168A>G
ENST00000695990.1:n.551A>G
ENST00000696026.1:c.*1799A>G	ENSP00000512335.1:n.*1799A>G
ENST00000696027.1:c.3511A>G	ENSP00000512336.1:p.Ile1171Val
ENST00000696028.1:c.3445A>G	ENSP00000512337.1:p.Ile1149Val
ENST00000696029.1:c.3511A>G	ENSP00000512338.1:p.Ile1171Val
ENST00000696031.1:c.*3035A>G	ENSP00000512340.1:n.*3035A>G
ENST00000696032.1:c.3517A>G	ENSP00000512341.1:p.Ile1173Val
ENST00000696033.1:c.1160-32663A>G	ENSP00000512342.1:n.1160-32663A>G
ENST00000367429.9:c.3517A>G MANE Select	ENSP00000356399.4:p.Ile1173Val
ENST00000367429.8:c.3517A>G	ENSP00000356399.4:p.Ile1173Val
ENST00000466229.5:n.6615A>G
NM_000186.3:c.3517A>G , LRG_47t1:c.3517A>G	NP_000177.2:p.Ile1173Val
XR_001737134.2:n.3703A>G
NM_000186.4:c.3517A>G MANE Select	NP_000177.2:p.Ile1173Val