Canonical Allele Identifier: CA2649647077

Gene: CFH

Linked Data

• gnomAD v4: 1-196746998-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196746998T>C , CM000663.2:g.196746998T>C	GRCh38
NC_000001.10:g.196716128T>C , CM000663.1:g.196716128T>C	GRCh37
NC_000001.9:g.194982751T>C	NCBI36
NG_007259.1:g.99988T>C , LRG_47:g.99988T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4522-113T>C
ENST00000695970.1:c.3320-113T>C	ENSP00000512297.1:n.3320-113T>C
ENST00000695971.1:c.3473-113T>C	ENSP00000512298.1:n.3473-113T>C
ENST00000695972.1:c.*571-113T>C	ENSP00000512299.1:n.*571-113T>C
ENST00000695973.1:c.*1858-113T>C	ENSP00000512300.1:n.*1858-113T>C
ENST00000695974.1:c.3317-113T>C	ENSP00000512301.1:n.3317-113T>C
ENST00000695975.1:c.*1621-113T>C	ENSP00000512302.1:n.*1621-113T>C
ENST00000695976.1:c.3305-113T>C	ENSP00000512303.1:n.3305-113T>C
ENST00000695981.1:c.3494-113T>C	ENSP00000512306.1:n.3494-113T>C
ENST00000695984.1:c.1502-113T>C	ENSP00000512309.1:n.1502-113T>C
ENST00000695986.1:c.*3145-113T>C	ENSP00000512311.1:n.*3145-113T>C
ENST00000695990.1:n.528-113T>C
ENST00000696026.1:c.*1776-113T>C	ENSP00000512335.1:n.*1776-113T>C
ENST00000696027.1:c.3488-113T>C	ENSP00000512336.1:n.3488-113T>C
ENST00000696028.1:c.3422-113T>C	ENSP00000512337.1:n.3422-113T>C
ENST00000696029.1:c.3488-113T>C	ENSP00000512338.1:n.3488-113T>C
ENST00000696031.1:c.*3012-113T>C	ENSP00000512340.1:n.*3012-113T>C
ENST00000696032.1:c.3494-113T>C	ENSP00000512341.1:n.3494-113T>C
ENST00000696033.1:c.1160-32799T>C	ENSP00000512342.1:n.1160-32799T>C
ENST00000367429.9:c.3494-113T>C MANE Select	ENSP00000356399.4:n.3494-113T>C
ENST00000367429.8:c.3494-113T>C	ENSP00000356399.4:n.3494-113T>C
ENST00000466229.5:n.6592-113T>C
NM_000186.3:c.3494-113T>C , LRG_47t1:c.3494-113T>C	NP_000177.2:n.3494-113T>C
XR_001737134.2:n.3680-113T>C
NM_000186.4:c.3494-113T>C MANE Select	NP_000177.2:n.3494-113T>C