Canonical Allele Identifier: CA422663600

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716368T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747238T>C , CM000663.2:g.196747238T>C	GRCh38
NC_000001.10:g.196716368T>C , CM000663.1:g.196716368T>C	GRCh37
NC_000001.9:g.194982991T>C	NCBI36
NG_007259.1:g.100228T>C , LRG_47:g.100228T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4649T>C
ENST00000695970.1:c.3447T>C	ENSP00000512297.1:p.Leu1149=
ENST00000695971.1:c.3600T>C	ENSP00000512298.1:p.Leu1200=
ENST00000695972.1:c.*698T>C	ENSP00000512299.1:n.*698T>C
ENST00000695973.1:c.*1985T>C	ENSP00000512300.1:n.*1985T>C
ENST00000695974.1:c.3444T>C	ENSP00000512301.1:p.Leu1148=
ENST00000695975.1:c.*1748T>C	ENSP00000512302.1:n.*1748T>C
ENST00000695976.1:c.3432T>C	ENSP00000512303.1:p.Leu1144=
ENST00000695981.1:c.3580+41T>C	ENSP00000512306.1:n.3580+41T>C
ENST00000695984.1:c.1629T>C	ENSP00000512309.1:p.Leu543=
ENST00000695986.1:c.*3272T>C	ENSP00000512311.1:n.*3272T>C
ENST00000695990.1:n.655T>C
ENST00000696026.1:c.*1903T>C	ENSP00000512335.1:n.*1903T>C
ENST00000696027.1:c.3615T>C	ENSP00000512336.1:p.Leu1205=
ENST00000696028.1:c.3549T>C	ENSP00000512337.1:p.Leu1183=
ENST00000696029.1:c.3615T>C	ENSP00000512338.1:p.Leu1205=
ENST00000696031.1:c.*3139T>C	ENSP00000512340.1:n.*3139T>C
ENST00000696032.1:c.3580+41T>C	ENSP00000512341.1:n.3580+41T>C
ENST00000696033.1:c.1160-32559T>C	ENSP00000512342.1:n.1160-32559T>C
ENST00000367429.9:c.3621T>C MANE Select	ENSP00000356399.4:p.Leu1207=
ENST00000367429.8:c.3621T>C	ENSP00000356399.4:p.Leu1207=
ENST00000466229.5:n.6719T>C
NM_000186.3:c.3621T>C , LRG_47t1:c.3621T>C	NP_000177.2:p.Leu1207=
XR_001737134.2:n.3807T>C
NM_000186.4:c.3621T>C MANE Select	NP_000177.2:p.Leu1207=