Canonical Allele Identifier: CA1305853

Gene: CFH

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743456C>T , CM000663.2:g.196743456C>T	GRCh38
NC_000001.10:g.196712586C>T , CM000663.1:g.196712586C>T	GRCh37
NC_000001.9:g.194979209C>T	NCBI36
NG_007259.1:g.96446C>T , LRG_47:g.96446C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4166C>T
ENST00000695970.1:c.2964C>T	ENSP00000512297.1:p.Thr988=
ENST00000695971.1:c.3117C>T	ENSP00000512298.1:p.Thr1039=
ENST00000695972.1:c.*215C>T	ENSP00000512299.1:n.*215C>T
ENST00000695973.1:c.*1502C>T	ENSP00000512300.1:n.*1502C>T
ENST00000695974.1:c.2961C>T	ENSP00000512301.1:p.Thr987=
ENST00000695975.1:c.*1265C>T	ENSP00000512302.1:n.*1265C>T
ENST00000695976.1:c.2949C>T	ENSP00000512303.1:p.Thr983=
ENST00000695981.1:c.3138C>T	ENSP00000512306.1:p.Thr1046=
ENST00000695984.1:c.1146C>T	ENSP00000512309.1:p.Thr382=
ENST00000695986.1:c.*2789C>T	ENSP00000512311.1:n.*2789C>T
ENST00000696026.1:c.*1420C>T	ENSP00000512335.1:n.*1420C>T
ENST00000696027.1:c.3132C>T	ENSP00000512336.1:p.Thr1044=
ENST00000696028.1:c.3066C>T	ENSP00000512337.1:p.Thr1022=
ENST00000696029.1:c.3132C>T	ENSP00000512338.1:p.Thr1044=
ENST00000696031.1:c.*2656C>T	ENSP00000512340.1:n.*2656C>T
ENST00000696032.1:c.3138C>T	ENSP00000512341.1:p.Thr1046=
ENST00000696033.1:c.1160-36341C>T	ENSP00000512342.1:n.1160-36341C>T
ENST00000367429.9:c.3138C>T MANE Select	ENSP00000356399.4:p.Thr1046=
ENST00000367429.8:c.3138C>T	ENSP00000356399.4:p.Thr1046=
ENST00000466229.5:n.6236C>T
NM_000186.3:c.3138C>T , LRG_47t1:c.3138C>T	NP_000177.2:p.Thr1046=
XR_001737134.2:n.3324C>T
NM_000186.4:c.3138C>T MANE Select	NP_000177.2:p.Thr1046=