Canonical Allele Identifier: CA343987306

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716284A>G (hg19) ; chr1:g.196747154A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747154A>G , CM000663.2:g.196747154A>G	GRCh38
NC_000001.10:g.196716284A>G , CM000663.1:g.196716284A>G	GRCh37
NC_000001.9:g.194982907A>G	NCBI36
NG_007259.1:g.100144A>G , LRG_47:g.100144A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4565A>G
ENST00000695970.1:c.3363A>G	ENSP00000512297.1:p.Ile1121Met
ENST00000695971.1:c.3516A>G	ENSP00000512298.1:p.Ile1172Met
ENST00000695972.1:c.*614A>G	ENSP00000512299.1:n.*614A>G
ENST00000695973.1:c.*1901A>G	ENSP00000512300.1:n.*1901A>G
ENST00000695974.1:c.3360A>G	ENSP00000512301.1:p.Ile1120Met
ENST00000695975.1:c.*1664A>G	ENSP00000512302.1:n.*1664A>G
ENST00000695976.1:c.3348A>G	ENSP00000512303.1:p.Ile1116Met
ENST00000695981.1:c.3537A>G	ENSP00000512306.1:p.Ile1179Met
ENST00000695984.1:c.1545A>G	ENSP00000512309.1:p.Ile515Met
ENST00000695986.1:c.*3188A>G	ENSP00000512311.1:n.*3188A>G
ENST00000695990.1:n.571A>G
ENST00000696026.1:c.*1819A>G	ENSP00000512335.1:n.*1819A>G
ENST00000696027.1:c.3531A>G	ENSP00000512336.1:p.Ile1177Met
ENST00000696028.1:c.3465A>G	ENSP00000512337.1:p.Ile1155Met
ENST00000696029.1:c.3531A>G	ENSP00000512338.1:p.Ile1177Met
ENST00000696031.1:c.*3055A>G	ENSP00000512340.1:n.*3055A>G
ENST00000696032.1:c.3537A>G	ENSP00000512341.1:p.Ile1179Met
ENST00000696033.1:c.1160-32643A>G	ENSP00000512342.1:n.1160-32643A>G
ENST00000367429.9:c.3537A>G MANE Select	ENSP00000356399.4:p.Ile1179Met
ENST00000367429.8:c.3537A>G	ENSP00000356399.4:p.Ile1179Met
ENST00000466229.5:n.6635A>G
NM_000186.3:c.3537A>G , LRG_47t1:c.3537A>G	NP_000177.2:p.Ile1179Met
XR_001737134.2:n.3723A>G
NM_000186.4:c.3537A>G MANE Select	NP_000177.2:p.Ile1179Met