Canonical Allele Identifier: CA528259372

Gene: CFH

Linked Data

• dbSNP Id: rs1483996060
• gnomAD v2: 1-196713013-T-G
• gnomAD v3: 1-196743883-T-G
• gnomAD v4: 1-196743883-T-G
• MyVariant Identifiers: chr1:g.196713013T>G (hg19) ; chr1:g.196743883T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743883T>G , CM000663.2:g.196743883T>G	GRCh38
NC_000001.10:g.196713013T>G , CM000663.1:g.196713013T>G	GRCh37
NC_000001.9:g.194979636T>G	NCBI36
NG_007259.1:g.96873T>G , LRG_47:g.96873T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4338+255T>G
ENST00000695970.1:c.3136+255T>G	ENSP00000512297.1:n.3136+255T>G
ENST00000695971.1:c.3289+255T>G	ENSP00000512298.1:n.3289+255T>G
ENST00000695972.1:c.*387+255T>G	ENSP00000512299.1:n.*387+255T>G
ENST00000695973.1:c.*1674+255T>G	ENSP00000512300.1:n.*1674+255T>G
ENST00000695974.1:c.3133+255T>G	ENSP00000512301.1:n.3133+255T>G
ENST00000695975.1:c.*1437+255T>G	ENSP00000512302.1:n.*1437+255T>G
ENST00000695976.1:c.3121+255T>G	ENSP00000512303.1:n.3121+255T>G
ENST00000695981.1:c.3310+255T>G	ENSP00000512306.1:n.3310+255T>G
ENST00000695984.1:c.1318+255T>G	ENSP00000512309.1:n.1318+255T>G
ENST00000695986.1:c.*2961+255T>G	ENSP00000512311.1:n.*2961+255T>G
ENST00000696026.1:c.*1592+255T>G	ENSP00000512335.1:n.*1592+255T>G
ENST00000696027.1:c.3304+255T>G	ENSP00000512336.1:n.3304+255T>G
ENST00000696028.1:c.3238+255T>G	ENSP00000512337.1:n.3238+255T>G
ENST00000696029.1:c.3304+255T>G	ENSP00000512338.1:n.3304+255T>G
ENST00000696031.1:c.*2828+255T>G	ENSP00000512340.1:n.*2828+255T>G
ENST00000696032.1:c.3310+255T>G	ENSP00000512341.1:n.3310+255T>G
ENST00000696033.1:c.1160-35914T>G	ENSP00000512342.1:n.1160-35914T>G
ENST00000367429.9:c.3310+255T>G MANE Select	ENSP00000356399.4:n.3310+255T>G
ENST00000367429.8:c.3310+255T>G	ENSP00000356399.4:n.3310+255T>G
ENST00000466229.5:n.6408+255T>G
NM_000186.3:c.3310+255T>G , LRG_47t1:c.3310+255T>G	NP_000177.2:n.3310+255T>G
XR_001737134.2:n.3496+255T>G
NM_000186.4:c.3310+255T>G MANE Select	NP_000177.2:n.3310+255T>G