Canonical Allele Identifier: CA422663868

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716428T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747298T>G , CM000663.2:g.196747298T>G	GRCh38
NC_000001.10:g.196716428T>G , CM000663.1:g.196716428T>G	GRCh37
NC_000001.9:g.194983051T>G	NCBI36
NG_007259.1:g.100288T>G , LRG_47:g.100288T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4709T>G
ENST00000695970.1:c.3507T>G	ENSP00000512297.1:p.Thr1169=
ENST00000695971.1:c.3660T>G	ENSP00000512298.1:p.Thr1220=
ENST00000695972.1:c.*758T>G	ENSP00000512299.1:n.*758T>G
ENST00000695973.1:c.*2045T>G	ENSP00000512300.1:n.*2045T>G
ENST00000695974.1:c.3504T>G	ENSP00000512301.1:p.Thr1168=
ENST00000695975.1:c.*1808T>G	ENSP00000512302.1:n.*1808T>G
ENST00000695976.1:c.3492T>G	ENSP00000512303.1:p.Thr1164=
ENST00000695981.1:c.3580+101T>G	ENSP00000512306.1:n.3580+101T>G
ENST00000695984.1:c.1689T>G	ENSP00000512309.1:p.Thr563=
ENST00000695986.1:c.*3332T>G	ENSP00000512311.1:n.*3332T>G
ENST00000695990.1:n.715T>G
ENST00000696026.1:c.*1963T>G	ENSP00000512335.1:n.*1963T>G
ENST00000696027.1:c.3675T>G	ENSP00000512336.1:p.Thr1225=
ENST00000696028.1:c.3609T>G	ENSP00000512337.1:p.Thr1203=
ENST00000696029.1:c.3675T>G	ENSP00000512338.1:p.Thr1225=
ENST00000696031.1:c.*3199T>G	ENSP00000512340.1:n.*3199T>G
ENST00000696032.1:c.3580+101T>G	ENSP00000512341.1:n.3580+101T>G
ENST00000696033.1:c.1160-32499T>G	ENSP00000512342.1:n.1160-32499T>G
ENST00000367429.9:c.3681T>G MANE Select	ENSP00000356399.4:p.Thr1227=
ENST00000367429.8:c.3681T>G	ENSP00000356399.4:p.Thr1227=
ENST00000466229.5:n.6779T>G
NM_000186.3:c.3681T>G , LRG_47t1:c.3681T>G	NP_000177.2:p.Thr1227=
XR_001737134.2:n.3867T>G
NM_000186.4:c.3681T>G MANE Select	NP_000177.2:p.Thr1227=