Canonical Allele Identifier: CA343983140

Gene: CFH

Linked Data

• ClinVar Variation Id: 1030653
• ClinVar RCV Id: RCV001332257 ; RCV003145578 ; RCV003449943 ; RCV003449944 ; RCV003456221
• dbSNP Id: rs1652885970
• MyVariant Identifiers: chr1:g.196712617G>A (hg19) ; chr1:g.196743487G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743487G>A , CM000663.2:g.196743487G>A	GRCh38
NC_000001.10:g.196712617G>A , CM000663.1:g.196712617G>A	GRCh37
NC_000001.9:g.194979240G>A	NCBI36
NG_007259.1:g.96477G>A , LRG_47:g.96477G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4197G>A
ENST00000695970.1:c.2995G>A	ENSP00000512297.1:p.Ala999Thr
ENST00000695971.1:c.3148G>A	ENSP00000512298.1:p.Ala1050Thr
ENST00000695972.1:c.*246G>A	ENSP00000512299.1:n.*246G>A
ENST00000695973.1:c.*1533G>A	ENSP00000512300.1:n.*1533G>A
ENST00000695974.1:c.2992G>A	ENSP00000512301.1:p.Ala998Thr
ENST00000695975.1:c.*1296G>A	ENSP00000512302.1:n.*1296G>A
ENST00000695976.1:c.2980G>A	ENSP00000512303.1:p.Ala994Thr
ENST00000695981.1:c.3169G>A	ENSP00000512306.1:p.Ala1057Thr
ENST00000695984.1:c.1177G>A	ENSP00000512309.1:p.Ala393Thr
ENST00000695986.1:c.*2820G>A	ENSP00000512311.1:n.*2820G>A
ENST00000696026.1:c.*1451G>A	ENSP00000512335.1:n.*1451G>A
ENST00000696027.1:c.3163G>A	ENSP00000512336.1:p.Ala1055Thr
ENST00000696028.1:c.3097G>A	ENSP00000512337.1:p.Ala1033Thr
ENST00000696029.1:c.3163G>A	ENSP00000512338.1:p.Ala1055Thr
ENST00000696031.1:c.*2687G>A	ENSP00000512340.1:n.*2687G>A
ENST00000696032.1:c.3169G>A	ENSP00000512341.1:p.Ala1057Thr
ENST00000696033.1:c.1160-36310G>A	ENSP00000512342.1:n.1160-36310G>A
ENST00000367429.9:c.3169G>A MANE Select	ENSP00000356399.4:p.Ala1057Thr
ENST00000367429.8:c.3169G>A	ENSP00000356399.4:p.Ala1057Thr
ENST00000466229.5:n.6267G>A
NM_000186.3:c.3169G>A , LRG_47t1:c.3169G>A	NP_000177.2:p.Ala1057Thr
XR_001737134.2:n.3355G>A
NM_000186.4:c.3169G>A MANE Select	NP_000177.2:p.Ala1057Thr