Canonical Allele Identifier: CA1217770685

Gene: CFH

Linked Data

• dbSNP Id: rs1653033135

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747009A>C , CM000663.2:g.196747009A>C	GRCh38
NC_000001.10:g.196716139A>C , CM000663.1:g.196716139A>C	GRCh37
NC_000001.9:g.194982762A>C	NCBI36
NG_007259.1:g.99999A>C , LRG_47:g.99999A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4522-102A>C
ENST00000695970.1:c.3320-102A>C	ENSP00000512297.1:n.3320-102A>C
ENST00000695971.1:c.3473-102A>C	ENSP00000512298.1:n.3473-102A>C
ENST00000695972.1:c.*571-102A>C	ENSP00000512299.1:n.*571-102A>C
ENST00000695973.1:c.*1858-102A>C	ENSP00000512300.1:n.*1858-102A>C
ENST00000695974.1:c.3317-102A>C	ENSP00000512301.1:n.3317-102A>C
ENST00000695975.1:c.*1621-102A>C	ENSP00000512302.1:n.*1621-102A>C
ENST00000695976.1:c.3305-102A>C	ENSP00000512303.1:n.3305-102A>C
ENST00000695981.1:c.3494-102A>C	ENSP00000512306.1:n.3494-102A>C
ENST00000695984.1:c.1502-102A>C	ENSP00000512309.1:n.1502-102A>C
ENST00000695986.1:c.*3145-102A>C	ENSP00000512311.1:n.*3145-102A>C
ENST00000695990.1:n.528-102A>C
ENST00000696026.1:c.*1776-102A>C	ENSP00000512335.1:n.*1776-102A>C
ENST00000696027.1:c.3488-102A>C	ENSP00000512336.1:n.3488-102A>C
ENST00000696028.1:c.3422-102A>C	ENSP00000512337.1:n.3422-102A>C
ENST00000696029.1:c.3488-102A>C	ENSP00000512338.1:n.3488-102A>C
ENST00000696031.1:c.*3012-102A>C	ENSP00000512340.1:n.*3012-102A>C
ENST00000696032.1:c.3494-102A>C	ENSP00000512341.1:n.3494-102A>C
ENST00000696033.1:c.1160-32788A>C	ENSP00000512342.1:n.1160-32788A>C
ENST00000367429.9:c.3494-102A>C MANE Select	ENSP00000356399.4:n.3494-102A>C
ENST00000367429.8:c.3494-102A>C	ENSP00000356399.4:n.3494-102A>C
ENST00000466229.5:n.6592-102A>C
NM_000186.3:c.3494-102A>C , LRG_47t1:c.3494-102A>C	NP_000177.2:n.3494-102A>C
XR_001737134.2:n.3680-102A>C
NM_000186.4:c.3494-102A>C MANE Select	NP_000177.2:n.3494-102A>C