Canonical Allele Identifier: CA422663522

Gene: CFH

Linked Data

• dbSNP Id: rs1467049835
• gnomAD v2: 1-196716311-G-A
• gnomAD v4: 1-196747181-G-A
• MyVariant Identifiers: chr1:g.196716311G>A (hg19) ; chr1:g.196747181G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747181G>A , CM000663.2:g.196747181G>A	GRCh38
NC_000001.10:g.196716311G>A , CM000663.1:g.196716311G>A	GRCh37
NC_000001.9:g.194982934G>A	NCBI36
NG_007259.1:g.100171G>A , LRG_47:g.100171G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4592G>A
ENST00000695970.1:c.3390G>A	ENSP00000512297.1:p.Lys1130=
ENST00000695971.1:c.3543G>A	ENSP00000512298.1:p.Lys1181=
ENST00000695972.1:c.*641G>A	ENSP00000512299.1:n.*641G>A
ENST00000695973.1:c.*1928G>A	ENSP00000512300.1:n.*1928G>A
ENST00000695974.1:c.3387G>A	ENSP00000512301.1:p.Lys1129=
ENST00000695975.1:c.*1691G>A	ENSP00000512302.1:n.*1691G>A
ENST00000695976.1:c.3375G>A	ENSP00000512303.1:p.Lys1125=
ENST00000695981.1:c.3564G>A	ENSP00000512306.1:p.Lys1188=
ENST00000695984.1:c.1572G>A	ENSP00000512309.1:p.Lys524=
ENST00000695986.1:c.*3215G>A	ENSP00000512311.1:n.*3215G>A
ENST00000695990.1:n.598G>A
ENST00000696026.1:c.*1846G>A	ENSP00000512335.1:n.*1846G>A
ENST00000696027.1:c.3558G>A	ENSP00000512336.1:p.Lys1186=
ENST00000696028.1:c.3492G>A	ENSP00000512337.1:p.Lys1164=
ENST00000696029.1:c.3558G>A	ENSP00000512338.1:p.Lys1186=
ENST00000696031.1:c.*3082G>A	ENSP00000512340.1:n.*3082G>A
ENST00000696032.1:c.3564G>A	ENSP00000512341.1:p.Lys1188=
ENST00000696033.1:c.1160-32616G>A	ENSP00000512342.1:n.1160-32616G>A
ENST00000367429.9:c.3564G>A MANE Select	ENSP00000356399.4:p.Lys1188=
ENST00000367429.8:c.3564G>A	ENSP00000356399.4:p.Lys1188=
ENST00000466229.5:n.6662G>A
NM_000186.3:c.3564G>A , LRG_47t1:c.3564G>A	NP_000177.2:p.Lys1188=
XR_001737134.2:n.3750G>A
NM_000186.4:c.3564G>A MANE Select	NP_000177.2:p.Lys1188=