Canonical Allele Identifier: CA1305882

Gene: CFH

Linked Data

• dbSNP Id: rs750509800
• ExAC: 1:196712672 A / T
• gnomAD v2: 1-196712672-A-T
• MyVariant Identifiers: chr1:g.196712672A>T (hg19) ; chr1:g.196743542A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743542A>T , CM000663.2:g.196743542A>T	GRCh38
NC_000001.10:g.196712672A>T , CM000663.1:g.196712672A>T	GRCh37
NC_000001.9:g.194979295A>T	NCBI36
NG_007259.1:g.96532A>T , LRG_47:g.96532A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4252A>T
ENST00000695970.1:c.3050A>T	ENSP00000512297.1:p.Tyr1017Phe
ENST00000695971.1:c.3203A>T	ENSP00000512298.1:p.Tyr1068Phe
ENST00000695972.1:c.*301A>T	ENSP00000512299.1:n.*301A>T
ENST00000695973.1:c.*1588A>T	ENSP00000512300.1:n.*1588A>T
ENST00000695974.1:c.3047A>T	ENSP00000512301.1:p.Tyr1016Phe
ENST00000695975.1:c.*1351A>T	ENSP00000512302.1:n.*1351A>T
ENST00000695976.1:c.3035A>T	ENSP00000512303.1:p.Tyr1012Phe
ENST00000695981.1:c.3224A>T	ENSP00000512306.1:p.Tyr1075Phe
ENST00000695984.1:c.1232A>T	ENSP00000512309.1:p.Tyr411Phe
ENST00000695986.1:c.*2875A>T	ENSP00000512311.1:n.*2875A>T
ENST00000696026.1:c.*1506A>T	ENSP00000512335.1:n.*1506A>T
ENST00000696027.1:c.3218A>T	ENSP00000512336.1:p.Tyr1073Phe
ENST00000696028.1:c.3152A>T	ENSP00000512337.1:p.Tyr1051Phe
ENST00000696029.1:c.3218A>T	ENSP00000512338.1:p.Tyr1073Phe
ENST00000696031.1:c.*2742A>T	ENSP00000512340.1:n.*2742A>T
ENST00000696032.1:c.3224A>T	ENSP00000512341.1:p.Tyr1075Phe
ENST00000696033.1:c.1160-36255A>T	ENSP00000512342.1:n.1160-36255A>T
ENST00000367429.9:c.3224A>T MANE Select	ENSP00000356399.4:p.Tyr1075Phe
ENST00000367429.8:c.3224A>T	ENSP00000356399.4:p.Tyr1075Phe
ENST00000466229.5:n.6322A>T
NM_000186.3:c.3224A>T , LRG_47t1:c.3224A>T	NP_000177.2:p.Tyr1075Phe
XR_001737134.2:n.3410A>T
NM_000186.4:c.3224A>T MANE Select	NP_000177.2:p.Tyr1075Phe