Canonical Allele Identifier: CA343987841

Gene: CFH

Linked Data

• dbSNP Id: rs1228198918
• gnomAD v2: 1-196716333-T-C
• gnomAD v4: 1-196747203-T-C
• MyVariant Identifiers: chr1:g.196716333T>C (hg19) ; chr1:g.196747203T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747203T>C , CM000663.2:g.196747203T>C	GRCh38
NC_000001.10:g.196716333T>C , CM000663.1:g.196716333T>C	GRCh37
NC_000001.9:g.194982956T>C	NCBI36
NG_007259.1:g.100193T>C , LRG_47:g.100193T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4614T>C
ENST00000695970.1:c.3412T>C	ENSP00000512297.1:p.Ser1138Pro
ENST00000695971.1:c.3565T>C	ENSP00000512298.1:p.Ser1189Pro
ENST00000695972.1:c.*663T>C	ENSP00000512299.1:n.*663T>C
ENST00000695973.1:c.*1950T>C	ENSP00000512300.1:n.*1950T>C
ENST00000695974.1:c.3409T>C	ENSP00000512301.1:p.Ser1137Pro
ENST00000695975.1:c.*1713T>C	ENSP00000512302.1:n.*1713T>C
ENST00000695976.1:c.3397T>C	ENSP00000512303.1:p.Ser1133Pro
ENST00000695981.1:c.3580+6T>C	ENSP00000512306.1:n.3580+6T>C
ENST00000695984.1:c.1594T>C	ENSP00000512309.1:p.Ser532Pro
ENST00000695986.1:c.*3237T>C	ENSP00000512311.1:n.*3237T>C
ENST00000695990.1:n.620T>C
ENST00000696026.1:c.*1868T>C	ENSP00000512335.1:n.*1868T>C
ENST00000696027.1:c.3580T>C	ENSP00000512336.1:p.Ser1194Pro
ENST00000696028.1:c.3514T>C	ENSP00000512337.1:p.Ser1172Pro
ENST00000696029.1:c.3580T>C	ENSP00000512338.1:p.Ser1194Pro
ENST00000696031.1:c.*3104T>C	ENSP00000512340.1:n.*3104T>C
ENST00000696032.1:c.3580+6T>C	ENSP00000512341.1:n.3580+6T>C
ENST00000696033.1:c.1160-32594T>C	ENSP00000512342.1:n.1160-32594T>C
ENST00000367429.9:c.3586T>C MANE Select	ENSP00000356399.4:p.Ser1196Pro
ENST00000367429.8:c.3586T>C	ENSP00000356399.4:p.Ser1196Pro
ENST00000466229.5:n.6684T>C
NM_000186.3:c.3586T>C , LRG_47t1:c.3586T>C	NP_000177.2:p.Ser1196Pro
XR_001737134.2:n.3772T>C
NM_000186.4:c.3586T>C MANE Select	NP_000177.2:p.Ser1196Pro