Canonical Allele Identifier: CA35813482

Gene: CFH

Linked Data

• dbSNP Id: rs373218505
• gnomAD v2: 1-196712189-C-G
• gnomAD v3: 1-196743059-C-G
• gnomAD v4: 1-196743059-C-G
• MyVariant Identifiers: chr1:g.196712189C>G (hg19) ; chr1:g.196743059C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743059C>G , CM000663.2:g.196743059C>G	GRCh38
NC_000001.10:g.196712189C>G , CM000663.1:g.196712189C>G	GRCh37
NC_000001.9:g.194978812C>G	NCBI36
NG_007259.1:g.96049C>G , LRG_47:g.96049C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4162-393C>G
ENST00000695970.1:c.2960-393C>G	ENSP00000512297.1:n.2960-393C>G
ENST00000695971.1:c.3113-393C>G	ENSP00000512298.1:n.3113-393C>G
ENST00000695972.1:c.*211-393C>G	ENSP00000512299.1:n.*211-393C>G
ENST00000695973.1:c.*1498-393C>G	ENSP00000512300.1:n.*1498-393C>G
ENST00000695974.1:c.2957-393C>G	ENSP00000512301.1:n.2957-393C>G
ENST00000695975.1:c.*1261-393C>G	ENSP00000512302.1:n.*1261-393C>G
ENST00000695976.1:c.2945-393C>G	ENSP00000512303.1:n.2945-393C>G
ENST00000695981.1:c.3134-393C>G	ENSP00000512306.1:n.3134-393C>G
ENST00000695984.1:c.1142-393C>G	ENSP00000512309.1:n.1142-393C>G
ENST00000695986.1:c.*2785-393C>G	ENSP00000512311.1:n.*2785-393C>G
ENST00000696026.1:c.*1416-393C>G	ENSP00000512335.1:n.*1416-393C>G
ENST00000696027.1:c.3128-393C>G	ENSP00000512336.1:n.3128-393C>G
ENST00000696028.1:c.3062-393C>G	ENSP00000512337.1:n.3062-393C>G
ENST00000696029.1:c.3128-393C>G	ENSP00000512338.1:n.3128-393C>G
ENST00000696031.1:c.*2652-393C>G	ENSP00000512340.1:n.*2652-393C>G
ENST00000696032.1:c.3134-393C>G	ENSP00000512341.1:n.3134-393C>G
ENST00000696033.1:c.1160-36738C>G	ENSP00000512342.1:n.1160-36738C>G
ENST00000367429.9:c.3134-393C>G MANE Select	ENSP00000356399.4:n.3134-393C>G
ENST00000367429.8:c.3134-393C>G	ENSP00000356399.4:n.3134-393C>G
ENST00000466229.5:n.6232-393C>G
NM_000186.3:c.3134-393C>G , LRG_47t1:c.3134-393C>G	NP_000177.2:n.3134-393C>G
XR_001737134.2:n.3320-393C>G
NM_000186.4:c.3134-393C>G MANE Select	NP_000177.2:n.3134-393C>G