Canonical Allele Identifier: CA2649644964

Gene: CFH

Linked Data

• gnomAD v4: 1-196714022-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196714030_196714031dup , CM000663.2:g.196714030_196714031dup	GRCh38
NC_000001.10:g.196683160_196683161dup , CM000663.1:g.196683160_196683161dup	GRCh37
NC_000001.9:g.194949783_194949784dup	NCBI36
NG_007259.1:g.67020_67021dup , LRG_47:g.67020_67021dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1785+113_1785+114dup
ENST00000695969.1:c.1519+113_1519+114dup	ENSP00000512296.1:n.1519+113_1519+114dup
ENST00000695970.1:c.1519+113_1519+114dup	ENSP00000512297.1:n.1519+113_1519+114dup
ENST00000695971.1:c.1498+113_1498+114dup	ENSP00000512298.1:n.1498+113_1498+114dup
ENST00000695972.1:c.1519+113_1519+114dup	ENSP00000512299.1:n.1519+113_1519+114dup
ENST00000695973.1:c.1519+113_1519+114dup	ENSP00000512300.1:n.1519+113_1519+114dup
ENST00000695974.1:c.1519+113_1519+114dup	ENSP00000512301.1:n.1519+113_1519+114dup
ENST00000695975.1:c.1519+113_1519+114dup	ENSP00000512302.1:n.1519+113_1519+114dup
ENST00000695976.1:c.1330+113_1330+114dup	ENSP00000512303.1:n.1330+113_1330+114dup
ENST00000695981.1:c.1519+113_1519+114dup	ENSP00000512306.1:n.1519+113_1519+114dup
ENST00000695983.1:c.1519+113_1519+114dup	ENSP00000512308.1:n.1519+113_1519+114dup
ENST00000695984.1:c.245-14316_245-14315dup	ENSP00000512309.1:n.245-14316_245-14315dup
ENST00000695986.1:c.*1170+113_*1170+114dup	ENSP00000512311.1:n.*1170+113_*1170+114dup
ENST00000696024.1:n.1603+113_1603+114dup
ENST00000696025.1:n.1603+113_1603+114dup
ENST00000696026.1:c.1519+113_1519+114dup	ENSP00000512335.1:n.1519+113_1519+114dup
ENST00000696027.1:c.1519+113_1519+114dup	ENSP00000512336.1:n.1519+113_1519+114dup
ENST00000696028.1:c.1519+113_1519+114dup	ENSP00000512337.1:n.1519+113_1519+114dup
ENST00000696029.1:c.1519+113_1519+114dup	ENSP00000512338.1:n.1519+113_1519+114dup
ENST00000696031.1:c.*1037+113_*1037+114dup	ENSP00000512340.1:n.*1037+113_*1037+114dup
ENST00000696032.1:c.1519+113_1519+114dup	ENSP00000512341.1:n.1519+113_1519+114dup
ENST00000696033.1:c.1159+24416_1159+24417dup	ENSP00000512342.1:n.1159+24416_1159+24417dup
ENST00000367429.9:c.1519+113_1519+114dup MANE Select	ENSP00000356399.4:n.1519+113_1519+114dup
ENST00000367429.8:c.1519+113_1519+114dup	ENSP00000356399.4:n.1519+113_1519+114dup
ENST00000466229.5:n.3535+113_3535+114dup
NM_000186.3:c.1519+113_1519+114dup , LRG_47t1:c.1519+113_1519+114dup	NP_000177.2:n.1519+113_1519+114dup
XR_001737134.2:n.1604+113_1604+114dup
NM_000186.4:c.1519+113_1519+114dup MANE Select	NP_000177.2:n.1519+113_1519+114dup