Canonical Allele Identifier: CA343983693

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712684G>T (hg19) ; chr1:g.196743554G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743554G>T , CM000663.2:g.196743554G>T	GRCh38
NC_000001.10:g.196712684G>T , CM000663.1:g.196712684G>T	GRCh37
NC_000001.9:g.194979307G>T	NCBI36
NG_007259.1:g.96544G>T , LRG_47:g.96544G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4264G>T
ENST00000695970.1:c.3062G>T	ENSP00000512297.1:p.Ser1021Ile
ENST00000695971.1:c.3215G>T	ENSP00000512298.1:p.Ser1072Ile
ENST00000695972.1:c.*313G>T	ENSP00000512299.1:n.*313G>T
ENST00000695973.1:c.*1600G>T	ENSP00000512300.1:n.*1600G>T
ENST00000695974.1:c.3059G>T	ENSP00000512301.1:p.Ser1020Ile
ENST00000695975.1:c.*1363G>T	ENSP00000512302.1:n.*1363G>T
ENST00000695976.1:c.3047G>T	ENSP00000512303.1:p.Ser1016Ile
ENST00000695981.1:c.3236G>T	ENSP00000512306.1:p.Ser1079Ile
ENST00000695984.1:c.1244G>T	ENSP00000512309.1:p.Ser415Ile
ENST00000695986.1:c.*2887G>T	ENSP00000512311.1:n.*2887G>T
ENST00000696026.1:c.*1518G>T	ENSP00000512335.1:n.*1518G>T
ENST00000696027.1:c.3230G>T	ENSP00000512336.1:p.Ser1077Ile
ENST00000696028.1:c.3164G>T	ENSP00000512337.1:p.Ser1055Ile
ENST00000696029.1:c.3230G>T	ENSP00000512338.1:p.Ser1077Ile
ENST00000696031.1:c.*2754G>T	ENSP00000512340.1:n.*2754G>T
ENST00000696032.1:c.3236G>T	ENSP00000512341.1:p.Ser1079Ile
ENST00000696033.1:c.1160-36243G>T	ENSP00000512342.1:n.1160-36243G>T
ENST00000367429.9:c.3236G>T MANE Select	ENSP00000356399.4:p.Ser1079Ile
ENST00000367429.8:c.3236G>T	ENSP00000356399.4:p.Ser1079Ile
ENST00000466229.5:n.6334G>T
NM_000186.3:c.3236G>T , LRG_47t1:c.3236G>T	NP_000177.2:p.Ser1079Ile
XR_001737134.2:n.3422G>T
NM_000186.4:c.3236G>T MANE Select	NP_000177.2:p.Ser1079Ile