Canonical Allele Identifier: CA343987000

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716254A>G (hg19) ; chr1:g.196747124A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747124A>G , CM000663.2:g.196747124A>G	GRCh38
NC_000001.10:g.196716254A>G , CM000663.1:g.196716254A>G	GRCh37
NC_000001.9:g.194982877A>G	NCBI36
NG_007259.1:g.100114A>G , LRG_47:g.100114A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4535A>G
ENST00000695970.1:c.3333A>G	ENSP00000512297.1:p.Ile1111Met
ENST00000695971.1:c.3486A>G	ENSP00000512298.1:p.Ile1162Met
ENST00000695972.1:c.*584A>G	ENSP00000512299.1:n.*584A>G
ENST00000695973.1:c.*1871A>G	ENSP00000512300.1:n.*1871A>G
ENST00000695974.1:c.3330A>G	ENSP00000512301.1:p.Ile1110Met
ENST00000695975.1:c.*1634A>G	ENSP00000512302.1:n.*1634A>G
ENST00000695976.1:c.3318A>G	ENSP00000512303.1:p.Ile1106Met
ENST00000695981.1:c.3507A>G	ENSP00000512306.1:p.Ile1169Met
ENST00000695984.1:c.1515A>G	ENSP00000512309.1:p.Ile505Met
ENST00000695986.1:c.*3158A>G	ENSP00000512311.1:n.*3158A>G
ENST00000695990.1:n.541A>G
ENST00000696026.1:c.*1789A>G	ENSP00000512335.1:n.*1789A>G
ENST00000696027.1:c.3501A>G	ENSP00000512336.1:p.Ile1167Met
ENST00000696028.1:c.3435A>G	ENSP00000512337.1:p.Ile1145Met
ENST00000696029.1:c.3501A>G	ENSP00000512338.1:p.Ile1167Met
ENST00000696031.1:c.*3025A>G	ENSP00000512340.1:n.*3025A>G
ENST00000696032.1:c.3507A>G	ENSP00000512341.1:p.Ile1169Met
ENST00000696033.1:c.1160-32673A>G	ENSP00000512342.1:n.1160-32673A>G
ENST00000367429.9:c.3507A>G MANE Select	ENSP00000356399.4:p.Ile1169Met
ENST00000367429.8:c.3507A>G	ENSP00000356399.4:p.Ile1169Met
ENST00000466229.5:n.6605A>G
NM_000186.3:c.3507A>G , LRG_47t1:c.3507A>G	NP_000177.2:p.Ile1169Met
XR_001737134.2:n.3693A>G
NM_000186.4:c.3507A>G MANE Select	NP_000177.2:p.Ile1169Met