Canonical Allele Identifier: CA422663509

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716299A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747169A>G , CM000663.2:g.196747169A>G	GRCh38
NC_000001.10:g.196716299A>G , CM000663.1:g.196716299A>G	GRCh37
NC_000001.9:g.194982922A>G	NCBI36
NG_007259.1:g.100159A>G , LRG_47:g.100159A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4580A>G
ENST00000695970.1:c.3378A>G	ENSP00000512297.1:p.Thr1126=
ENST00000695971.1:c.3531A>G	ENSP00000512298.1:p.Thr1177=
ENST00000695972.1:c.*629A>G	ENSP00000512299.1:n.*629A>G
ENST00000695973.1:c.*1916A>G	ENSP00000512300.1:n.*1916A>G
ENST00000695974.1:c.3375A>G	ENSP00000512301.1:p.Thr1125=
ENST00000695975.1:c.*1679A>G	ENSP00000512302.1:n.*1679A>G
ENST00000695976.1:c.3363A>G	ENSP00000512303.1:p.Thr1121=
ENST00000695981.1:c.3552A>G	ENSP00000512306.1:p.Thr1184=
ENST00000695984.1:c.1560A>G	ENSP00000512309.1:p.Thr520=
ENST00000695986.1:c.*3203A>G	ENSP00000512311.1:n.*3203A>G
ENST00000695990.1:n.586A>G
ENST00000696026.1:c.*1834A>G	ENSP00000512335.1:n.*1834A>G
ENST00000696027.1:c.3546A>G	ENSP00000512336.1:p.Thr1182=
ENST00000696028.1:c.3480A>G	ENSP00000512337.1:p.Thr1160=
ENST00000696029.1:c.3546A>G	ENSP00000512338.1:p.Thr1182=
ENST00000696031.1:c.*3070A>G	ENSP00000512340.1:n.*3070A>G
ENST00000696032.1:c.3552A>G	ENSP00000512341.1:p.Thr1184=
ENST00000696033.1:c.1160-32628A>G	ENSP00000512342.1:n.1160-32628A>G
ENST00000367429.9:c.3552A>G MANE Select	ENSP00000356399.4:p.Thr1184=
ENST00000367429.8:c.3552A>G	ENSP00000356399.4:p.Thr1184=
ENST00000466229.5:n.6650A>G
NM_000186.3:c.3552A>G , LRG_47t1:c.3552A>G	NP_000177.2:p.Thr1184=
XR_001737134.2:n.3738A>G
NM_000186.4:c.3552A>G MANE Select	NP_000177.2:p.Thr1184=