Canonical Allele Identifier: CA1305876

Gene: CFH

Linked Data

• dbSNP Id: rs149230420
• ExAC: 1:196712659 G / A
• gnomAD v2: 1-196712659-G-A
• gnomAD v3: 1-196743529-G-A
• gnomAD v4: 1-196743529-G-A
• MyVariant Identifiers: chr1:g.196712659G>A (hg19) ; chr1:g.196743529G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743529G>A , CM000663.2:g.196743529G>A	GRCh38
NC_000001.10:g.196712659G>A , CM000663.1:g.196712659G>A	GRCh37
NC_000001.9:g.194979282G>A	NCBI36
NG_007259.1:g.96519G>A , LRG_47:g.96519G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4239G>A
ENST00000695970.1:c.3037G>A	ENSP00000512297.1:p.Glu1013Lys
ENST00000695971.1:c.3190G>A	ENSP00000512298.1:p.Glu1064Lys
ENST00000695972.1:c.*288G>A	ENSP00000512299.1:n.*288G>A
ENST00000695973.1:c.*1575G>A	ENSP00000512300.1:n.*1575G>A
ENST00000695974.1:c.3034G>A	ENSP00000512301.1:p.Glu1012Lys
ENST00000695975.1:c.*1338G>A	ENSP00000512302.1:n.*1338G>A
ENST00000695976.1:c.3022G>A	ENSP00000512303.1:p.Glu1008Lys
ENST00000695981.1:c.3211G>A	ENSP00000512306.1:p.Glu1071Lys
ENST00000695984.1:c.1219G>A	ENSP00000512309.1:p.Glu407Lys
ENST00000695986.1:c.*2862G>A	ENSP00000512311.1:n.*2862G>A
ENST00000696026.1:c.*1493G>A	ENSP00000512335.1:n.*1493G>A
ENST00000696027.1:c.3205G>A	ENSP00000512336.1:p.Glu1069Lys
ENST00000696028.1:c.3139G>A	ENSP00000512337.1:p.Glu1047Lys
ENST00000696029.1:c.3205G>A	ENSP00000512338.1:p.Glu1069Lys
ENST00000696031.1:c.*2729G>A	ENSP00000512340.1:n.*2729G>A
ENST00000696032.1:c.3211G>A	ENSP00000512341.1:p.Glu1071Lys
ENST00000696033.1:c.1160-36268G>A	ENSP00000512342.1:n.1160-36268G>A
ENST00000367429.9:c.3211G>A MANE Select	ENSP00000356399.4:p.Glu1071Lys
ENST00000367429.8:c.3211G>A	ENSP00000356399.4:p.Glu1071Lys
ENST00000466229.5:n.6309G>A
NM_000186.3:c.3211G>A , LRG_47t1:c.3211G>A	NP_000177.2:p.Glu1071Lys
XR_001737134.2:n.3397G>A
NM_000186.4:c.3211G>A MANE Select	NP_000177.2:p.Glu1071Lys