Canonical Allele Identifier: CA35865467

Gene: CFH

Linked Data

• dbSNP Id: rs1043855959
• gnomAD v3: 1-196733439-T-A
• gnomAD v4: 1-196733439-T-A
• MyVariant Identifiers: chr1:g.196702569T>A (hg19) ; chr1:g.196733439T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196733439T>A , CM000663.2:g.196733439T>A	GRCh38
NC_000001.10:g.196702569T>A , CM000663.1:g.196702569T>A	GRCh37
NC_000001.9:g.194969192T>A	NCBI36
NG_007259.1:g.86429T>A , LRG_47:g.86429T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.2680-3385T>A
ENST00000695969.1:c.2414-3385T>A	ENSP00000512296.1:n.2414-3385T>A
ENST00000695970.1:c.2414-3385T>A	ENSP00000512297.1:n.2414-3385T>A
ENST00000695971.1:c.2393-3385T>A	ENSP00000512298.1:n.2393-3385T>A
ENST00000695972.1:c.2232+6503T>A	ENSP00000512299.1:n.2232+6503T>A
ENST00000695973.1:c.*778-3385T>A	ENSP00000512300.1:n.*778-3385T>A
ENST00000695974.1:c.2237-3385T>A	ENSP00000512301.1:n.2237-3385T>A
ENST00000695975.1:c.*541-3385T>A	ENSP00000512302.1:n.*541-3385T>A
ENST00000695976.1:c.2225-3385T>A	ENSP00000512303.1:n.2225-3385T>A
ENST00000695981.1:c.2414-3385T>A	ENSP00000512306.1:n.2414-3385T>A
ENST00000695983.1:c.2414-3385T>A	ENSP00000512308.1:n.2414-3385T>A
ENST00000695984.1:c.422-3385T>A	ENSP00000512309.1:n.422-3385T>A
ENST00000695986.1:c.*2065-3385T>A	ENSP00000512311.1:n.*2065-3385T>A
ENST00000696025.1:n.2498-3385T>A
ENST00000696026.1:c.*696-3385T>A	ENSP00000512335.1:n.*696-3385T>A
ENST00000696027.1:c.2408-3385T>A	ENSP00000512336.1:n.2408-3385T>A
ENST00000696028.1:c.2414-3385T>A	ENSP00000512337.1:n.2414-3385T>A
ENST00000696029.1:c.2414-3385T>A	ENSP00000512338.1:n.2414-3385T>A
ENST00000696031.1:c.*1932-3385T>A	ENSP00000512340.1:n.*1932-3385T>A
ENST00000696032.1:c.2414-3385T>A	ENSP00000512341.1:n.2414-3385T>A
ENST00000696033.1:c.1159+43825T>A	ENSP00000512342.1:n.1159+43825T>A
ENST00000367429.9:c.2414-3385T>A MANE Select	ENSP00000356399.4:n.2414-3385T>A
ENST00000367429.8:c.2414-3385T>A	ENSP00000356399.4:n.2414-3385T>A
ENST00000466229.5:n.4430-3385T>A
NM_000186.3:c.2414-3385T>A , LRG_47t1:c.2414-3385T>A	NP_000177.2:n.2414-3385T>A
XR_001737134.2:n.2600-3385T>A
NM_000186.4:c.2414-3385T>A MANE Select	NP_000177.2:n.2414-3385T>A