Canonical Allele Identifier: CA422663531

Gene: CFH

Linked Data

• dbSNP Id: rs774650020
• MyVariant Identifiers: chr1:g.196716320G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747190G>T , CM000663.2:g.196747190G>T	GRCh38
NC_000001.10:g.196716320G>T , CM000663.1:g.196716320G>T	GRCh37
NC_000001.9:g.194982943G>T	NCBI36
NG_007259.1:g.100180G>T , LRG_47:g.100180G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4601G>T
ENST00000695970.1:c.3399G>T	ENSP00000512297.1:p.Ser1133=
ENST00000695971.1:c.3552G>T	ENSP00000512298.1:p.Ser1184=
ENST00000695972.1:c.*650G>T	ENSP00000512299.1:n.*650G>T
ENST00000695973.1:c.*1937G>T	ENSP00000512300.1:n.*1937G>T
ENST00000695974.1:c.3396G>T	ENSP00000512301.1:p.Ser1132=
ENST00000695975.1:c.*1700G>T	ENSP00000512302.1:n.*1700G>T
ENST00000695976.1:c.3384G>T	ENSP00000512303.1:p.Ser1128=
ENST00000695981.1:c.3573G>T	ENSP00000512306.1:p.Ser1191=
ENST00000695984.1:c.1581G>T	ENSP00000512309.1:p.Ser527=
ENST00000695986.1:c.*3224G>T	ENSP00000512311.1:n.*3224G>T
ENST00000695990.1:n.607G>T
ENST00000696026.1:c.*1855G>T	ENSP00000512335.1:n.*1855G>T
ENST00000696027.1:c.3567G>T	ENSP00000512336.1:p.Ser1189=
ENST00000696028.1:c.3501G>T	ENSP00000512337.1:p.Ser1167=
ENST00000696029.1:c.3567G>T	ENSP00000512338.1:p.Ser1189=
ENST00000696031.1:c.*3091G>T	ENSP00000512340.1:n.*3091G>T
ENST00000696032.1:c.3573G>T	ENSP00000512341.1:p.Ser1191=
ENST00000696033.1:c.1160-32607G>T	ENSP00000512342.1:n.1160-32607G>T
ENST00000367429.9:c.3573G>T MANE Select	ENSP00000356399.4:p.Ser1191=
ENST00000367429.8:c.3573G>T	ENSP00000356399.4:p.Ser1191=
ENST00000466229.5:n.6671G>T
NM_000186.3:c.3573G>T , LRG_47t1:c.3573G>T	NP_000177.2:p.Ser1191=
XR_001737134.2:n.3759G>T
NM_000186.4:c.3573G>T MANE Select	NP_000177.2:p.Ser1191=