Canonical Allele Identifier: CA343988078

Gene: CFH

Linked Data

• dbSNP Id: rs959443903
• gnomAD v2: 1-196716364-G-C
• gnomAD v4: 1-196747234-G-C
• MyVariant Identifiers: chr1:g.196716364G>C (hg19) ; chr1:g.196747234G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747234G>C , CM000663.2:g.196747234G>C	GRCh38
NC_000001.10:g.196716364G>C , CM000663.1:g.196716364G>C	GRCh37
NC_000001.9:g.194982987G>C	NCBI36
NG_007259.1:g.100224G>C , LRG_47:g.100224G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4645G>C
ENST00000695970.1:c.3443G>C	ENSP00000512297.1:p.Arg1148Pro
ENST00000695971.1:c.3596G>C	ENSP00000512298.1:p.Arg1199Pro
ENST00000695972.1:c.*694G>C	ENSP00000512299.1:n.*694G>C
ENST00000695973.1:c.*1981G>C	ENSP00000512300.1:n.*1981G>C
ENST00000695974.1:c.3440G>C	ENSP00000512301.1:p.Arg1147Pro
ENST00000695975.1:c.*1744G>C	ENSP00000512302.1:n.*1744G>C
ENST00000695976.1:c.3428G>C	ENSP00000512303.1:p.Arg1143Pro
ENST00000695981.1:c.3580+37G>C	ENSP00000512306.1:n.3580+37G>C
ENST00000695984.1:c.1625G>C	ENSP00000512309.1:p.Arg542Pro
ENST00000695986.1:c.*3268G>C	ENSP00000512311.1:n.*3268G>C
ENST00000695990.1:n.651G>C
ENST00000696026.1:c.*1899G>C	ENSP00000512335.1:n.*1899G>C
ENST00000696027.1:c.3611G>C	ENSP00000512336.1:p.Arg1204Pro
ENST00000696028.1:c.3545G>C	ENSP00000512337.1:p.Arg1182Pro
ENST00000696029.1:c.3611G>C	ENSP00000512338.1:p.Arg1204Pro
ENST00000696031.1:c.*3135G>C	ENSP00000512340.1:n.*3135G>C
ENST00000696032.1:c.3580+37G>C	ENSP00000512341.1:n.3580+37G>C
ENST00000696033.1:c.1160-32563G>C	ENSP00000512342.1:n.1160-32563G>C
ENST00000367429.9:c.3617G>C MANE Select	ENSP00000356399.4:p.Arg1206Pro
ENST00000367429.8:c.3617G>C	ENSP00000356399.4:p.Arg1206Pro
ENST00000466229.5:n.6715G>C
NM_000186.3:c.3617G>C , LRG_47t1:c.3617G>C	NP_000177.2:p.Arg1206Pro
XR_001737134.2:n.3803G>C
NM_000186.4:c.3617G>C MANE Select	NP_000177.2:p.Arg1206Pro