Canonical Allele Identifier: CA1305448

Gene: CFH

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196715690T>C , CM000663.2:g.196715690T>C	GRCh38
NC_000001.10:g.196684820T>C , CM000663.1:g.196684820T>C	GRCh37
NC_000001.9:g.194951443T>C	NCBI36
NG_007259.1:g.68680T>C , LRG_47:g.68680T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1883T>C
ENST00000695969.1:c.1617T>C	ENSP00000512296.1:p.Gly539=
ENST00000695970.1:c.1617T>C	ENSP00000512297.1:p.Gly539=
ENST00000695971.1:c.1596T>C	ENSP00000512298.1:p.Gly532=
ENST00000695972.1:c.1617T>C	ENSP00000512299.1:p.Gly539=
ENST00000695973.1:c.1617T>C	ENSP00000512300.1:p.Gly539=
ENST00000695974.1:c.1617T>C	ENSP00000512301.1:p.Gly539=
ENST00000695975.1:c.1617T>C	ENSP00000512302.1:p.Gly539=
ENST00000695976.1:c.1428T>C	ENSP00000512303.1:p.Gly476=
ENST00000695981.1:c.1617T>C	ENSP00000512306.1:p.Gly539=
ENST00000695983.1:c.1617T>C	ENSP00000512308.1:p.Gly539=
ENST00000695984.1:c.245-12656T>C	ENSP00000512309.1:n.245-12656T>C
ENST00000695986.1:c.*1268T>C	ENSP00000512311.1:n.*1268T>C
ENST00000696024.1:n.1701T>C
ENST00000696025.1:n.1701T>C
ENST00000696026.1:c.1617T>C	ENSP00000512335.1:p.Gly539=
ENST00000696027.1:c.1617T>C	ENSP00000512336.1:p.Gly539=
ENST00000696028.1:c.1617T>C	ENSP00000512337.1:p.Gly539=
ENST00000696029.1:c.1617T>C	ENSP00000512338.1:p.Gly539=
ENST00000696031.1:c.*1135T>C	ENSP00000512340.1:n.*1135T>C
ENST00000696032.1:c.1617T>C	ENSP00000512341.1:p.Gly539=
ENST00000696033.1:c.1159+26076T>C	ENSP00000512342.1:n.1159+26076T>C
ENST00000367429.9:c.1617T>C MANE Select	ENSP00000356399.4:p.Gly539=
ENST00000367429.8:c.1617T>C	ENSP00000356399.4:p.Gly539=
ENST00000466229.5:n.3633T>C
NM_000186.3:c.1617T>C , LRG_47t1:c.1617T>C	NP_000177.2:p.Gly539=
XR_001737134.2:n.1702T>C
NM_000186.4:c.1617T>C MANE Select	NP_000177.2:p.Gly539=