Canonical Allele Identifier: CA1305986

Gene: CFH

Linked Data

• ClinVar Variation Id: 1163686
• ClinVar RCV Id: RCV001508945
• dbSNP Id: rs145347741
• ExAC: 1:196716354 C / T
• gnomAD v2: 1-196716354-C-T
• gnomAD v3: 1-196747224-C-T
• gnomAD v4: 1-196747224-C-T
• COSMIC: COSM1180060
• MyVariant Identifiers: chr1:g.196716354C>T (hg19) ; chr1:g.196747224C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747224C>T , CM000663.2:g.196747224C>T	GRCh38
NC_000001.10:g.196716354C>T , CM000663.1:g.196716354C>T	GRCh37
NC_000001.9:g.194982977C>T	NCBI36
NG_007259.1:g.100214C>T , LRG_47:g.100214C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4635C>T
ENST00000695970.1:c.3433C>T	ENSP00000512297.1:p.Arg1145Trp
ENST00000695971.1:c.3586C>T	ENSP00000512298.1:p.Arg1196Trp
ENST00000695972.1:c.*684C>T	ENSP00000512299.1:n.*684C>T
ENST00000695973.1:c.*1971C>T	ENSP00000512300.1:n.*1971C>T
ENST00000695974.1:c.3430C>T	ENSP00000512301.1:p.Arg1144Trp
ENST00000695975.1:c.*1734C>T	ENSP00000512302.1:n.*1734C>T
ENST00000695976.1:c.3418C>T	ENSP00000512303.1:p.Arg1140Trp
ENST00000695981.1:c.3580+27C>T	ENSP00000512306.1:n.3580+27C>T
ENST00000695984.1:c.1615C>T	ENSP00000512309.1:p.Arg539Trp
ENST00000695986.1:c.*3258C>T	ENSP00000512311.1:n.*3258C>T
ENST00000695990.1:n.641C>T
ENST00000696026.1:c.*1889C>T	ENSP00000512335.1:n.*1889C>T
ENST00000696027.1:c.3601C>T	ENSP00000512336.1:p.Arg1201Trp
ENST00000696028.1:c.3535C>T	ENSP00000512337.1:p.Arg1179Trp
ENST00000696029.1:c.3601C>T	ENSP00000512338.1:p.Arg1201Trp
ENST00000696031.1:c.*3125C>T	ENSP00000512340.1:n.*3125C>T
ENST00000696032.1:c.3580+27C>T	ENSP00000512341.1:n.3580+27C>T
ENST00000696033.1:c.1160-32573C>T	ENSP00000512342.1:n.1160-32573C>T
ENST00000367429.9:c.3607C>T MANE Select	ENSP00000356399.4:p.Arg1203Trp
ENST00000367429.8:c.3607C>T	ENSP00000356399.4:p.Arg1203Trp
ENST00000466229.5:n.6705C>T
NM_000186.3:c.3607C>T , LRG_47t1:c.3607C>T	NP_000177.2:p.Arg1203Trp
XR_001737134.2:n.3793C>T
NM_000186.4:c.3607C>T MANE Select	NP_000177.2:p.Arg1203Trp