Canonical Allele Identifier: CA343987752

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716324A>T (hg19) ; chr1:g.196747194A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747194A>T , CM000663.2:g.196747194A>T	GRCh38
NC_000001.10:g.196716324A>T , CM000663.1:g.196716324A>T	GRCh37
NC_000001.9:g.194982947A>T	NCBI36
NG_007259.1:g.100184A>T , LRG_47:g.100184A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4605A>T
ENST00000695970.1:c.3403A>T	ENSP00000512297.1:p.Thr1135Ser
ENST00000695971.1:c.3556A>T	ENSP00000512298.1:p.Thr1186Ser
ENST00000695972.1:c.*654A>T	ENSP00000512299.1:n.*654A>T
ENST00000695973.1:c.*1941A>T	ENSP00000512300.1:n.*1941A>T
ENST00000695974.1:c.3400A>T	ENSP00000512301.1:p.Thr1134Ser
ENST00000695975.1:c.*1704A>T	ENSP00000512302.1:n.*1704A>T
ENST00000695976.1:c.3388A>T	ENSP00000512303.1:p.Thr1130Ser
ENST00000695981.1:c.3577A>T	ENSP00000512306.1:p.Thr1193Ser
ENST00000695984.1:c.1585A>T	ENSP00000512309.1:p.Thr529Ser
ENST00000695986.1:c.*3228A>T	ENSP00000512311.1:n.*3228A>T
ENST00000695990.1:n.611A>T
ENST00000696026.1:c.*1859A>T	ENSP00000512335.1:n.*1859A>T
ENST00000696027.1:c.3571A>T	ENSP00000512336.1:p.Thr1191Ser
ENST00000696028.1:c.3505A>T	ENSP00000512337.1:p.Thr1169Ser
ENST00000696029.1:c.3571A>T	ENSP00000512338.1:p.Thr1191Ser
ENST00000696031.1:c.*3095A>T	ENSP00000512340.1:n.*3095A>T
ENST00000696032.1:c.3577A>T	ENSP00000512341.1:p.Thr1193Ser
ENST00000696033.1:c.1160-32603A>T	ENSP00000512342.1:n.1160-32603A>T
ENST00000367429.9:c.3577A>T MANE Select	ENSP00000356399.4:p.Thr1193Ser
ENST00000367429.8:c.3577A>T	ENSP00000356399.4:p.Thr1193Ser
ENST00000466229.5:n.6675A>T
NM_000186.3:c.3577A>T , LRG_47t1:c.3577A>T	NP_000177.2:p.Thr1193Ser
XR_001737134.2:n.3763A>T
NM_000186.4:c.3577A>T MANE Select	NP_000177.2:p.Thr1193Ser