Canonical Allele Identifier: CA343978640

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196654241T>G (hg19) ; chr1:g.196685111T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196685111T>G , CM000663.2:g.196685111T>G	GRCh38
NC_000001.10:g.196654241T>G , CM000663.1:g.196654241T>G	GRCh37
NC_000001.9:g.194920864T>G	NCBI36
NG_007259.1:g.38101T>G , LRG_47:g.38101T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000359637.3:c.646T>G	ENSP00000352658.2:p.Leu216Val
ENST00000470918.2:n.1104T>G
ENST00000695968.1:c.655T>G	ENSP00000512295.1:p.Leu219Val
ENST00000695969.1:c.838T>G	ENSP00000512296.1:p.Leu280Val
ENST00000695970.1:c.838T>G	ENSP00000512297.1:p.Leu280Val
ENST00000695971.1:c.838T>G	ENSP00000512298.1:p.Leu280Val
ENST00000695972.1:c.838T>G	ENSP00000512299.1:p.Leu280Val
ENST00000695973.1:c.838T>G	ENSP00000512300.1:p.Leu280Val
ENST00000695974.1:c.838T>G	ENSP00000512301.1:p.Leu280Val
ENST00000695975.1:c.838T>G	ENSP00000512302.1:p.Leu280Val
ENST00000695976.1:c.649T>G	ENSP00000512303.1:p.Leu217Val
ENST00000695978.1:c.838T>G	ENSP00000512304.1:p.Leu280Val
ENST00000695979.1:c.838T>G	ENSP00000512305.1:p.Leu280Val
ENST00000695980.1:n.958T>G
ENST00000695981.1:c.838T>G	ENSP00000512306.1:p.Leu280Val
ENST00000695983.1:c.838T>G	ENSP00000512308.1:p.Leu280Val
ENST00000695984.1:c.244+11948T>G	ENSP00000512309.1:n.244+11948T>G
ENST00000695986.1:c.*489T>G	ENSP00000512311.1:n.*489T>G
ENST00000695987.1:c.649T>G	ENSP00000512312.1:p.Leu217Val
ENST00000696018.1:n.922T>G
ENST00000696019.1:n.922T>G
ENST00000696020.1:n.922T>G
ENST00000696021.1:n.922T>G
ENST00000696022.1:n.922T>G
ENST00000696023.1:c.838T>G	ENSP00000512334.1:p.Leu280Val
ENST00000696024.1:n.922T>G
ENST00000696025.1:n.922T>G
ENST00000696026.1:c.838T>G	ENSP00000512335.1:p.Leu280Val
ENST00000696027.1:c.838T>G	ENSP00000512336.1:p.Leu280Val
ENST00000696028.1:c.838T>G	ENSP00000512337.1:p.Leu280Val
ENST00000696029.1:c.838T>G	ENSP00000512338.1:p.Leu280Val
ENST00000696030.1:c.838T>G	ENSP00000512339.1:p.Leu280Val
ENST00000696031.1:c.*356T>G	ENSP00000512340.1:n.*356T>G
ENST00000696032.1:c.838T>G	ENSP00000512341.1:p.Leu280Val
ENST00000696033.1:c.838T>G	ENSP00000512342.1:p.Leu280Val
ENST00000367429.9:c.838T>G MANE Select	ENSP00000356399.4:p.Leu280Val
ENST00000359637.2:c.646T>G	ENSP00000352658.2:p.Leu216Val
ENST00000367429.8:c.838T>G	ENSP00000356399.4:p.Leu280Val
ENST00000466229.5:n.2854T>G
ENST00000630130.2:c.838T>G	ENSP00000487250.1:p.Leu280Val
NM_000186.3:c.838T>G , LRG_47t1:c.838T>G	NP_000177.2:p.Leu280Val
NM_001014975.2:c.838T>G	NP_001014975.1:p.Leu280Val
XM_017001108.2:c.838T>G	XP_016856597.1:p.Leu280Val
XR_001737134.2:n.923T>G
NM_000186.4:c.838T>G MANE Select	NP_000177.2:p.Leu280Val
NM_001014975.3:c.838T>G	NP_001014975.1:p.Leu280Val