Canonical Allele Identifier: CA35860249

Gene: CFH

Linked Data

• dbSNP Id: rs953146769
• MyVariant Identifiers: chr1:g.196695235A>T (hg19) ; chr1:g.196726105A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196726105A>T , CM000663.2:g.196726105A>T	GRCh38
NC_000001.10:g.196695235A>T , CM000663.1:g.196695235A>T	GRCh37
NC_000001.9:g.194961858A>T	NCBI36
NG_007259.1:g.79095A>T , LRG_47:g.79095A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.2140-365A>T
ENST00000695969.1:c.1874-365A>T	ENSP00000512296.1:n.1874-365A>T
ENST00000695970.1:c.1874-365A>T	ENSP00000512297.1:n.1874-365A>T
ENST00000695971.1:c.1853-365A>T	ENSP00000512298.1:n.1853-365A>T
ENST00000695972.1:c.1874-365A>T	ENSP00000512299.1:n.1874-365A>T
ENST00000695973.1:c.*238-365A>T	ENSP00000512300.1:n.*238-365A>T
ENST00000695974.1:c.1697-365A>T	ENSP00000512301.1:n.1697-365A>T
ENST00000695975.1:c.1874-351A>T	ENSP00000512302.1:n.1874-351A>T
ENST00000695976.1:c.1685-365A>T	ENSP00000512303.1:n.1685-365A>T
ENST00000695981.1:c.1874-365A>T	ENSP00000512306.1:n.1874-365A>T
ENST00000695983.1:c.1874-365A>T	ENSP00000512308.1:n.1874-365A>T
ENST00000695984.1:c.245-2241A>T	ENSP00000512309.1:n.245-2241A>T
ENST00000695986.1:c.*1525-365A>T	ENSP00000512311.1:n.*1525-365A>T
ENST00000696025.1:n.1958-365A>T
ENST00000696026.1:c.*156-365A>T	ENSP00000512335.1:n.*156-365A>T
ENST00000696027.1:c.1874-365A>T	ENSP00000512336.1:n.1874-365A>T
ENST00000696028.1:c.1874-365A>T	ENSP00000512337.1:n.1874-365A>T
ENST00000696029.1:c.1874-365A>T	ENSP00000512338.1:n.1874-365A>T
ENST00000696031.1:c.*1392-365A>T	ENSP00000512340.1:n.*1392-365A>T
ENST00000696032.1:c.1874-365A>T	ENSP00000512341.1:n.1874-365A>T
ENST00000696033.1:c.1159+36491A>T	ENSP00000512342.1:n.1159+36491A>T
ENST00000367429.9:c.1874-365A>T MANE Select	ENSP00000356399.4:n.1874-365A>T
ENST00000367429.8:c.1874-365A>T	ENSP00000356399.4:n.1874-365A>T
ENST00000466229.5:n.3890-365A>T
NM_000186.3:c.1874-365A>T , LRG_47t1:c.1874-365A>T	NP_000177.2:n.1874-365A>T
XR_001737134.2:n.2060-365A>T
NM_000186.4:c.1874-365A>T MANE Select	NP_000177.2:n.1874-365A>T