Canonical Allele Identifier: CA343988047

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716358G>C (hg19) ; chr1:g.196747228G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747228G>C , CM000663.2:g.196747228G>C	GRCh38
NC_000001.10:g.196716358G>C , CM000663.1:g.196716358G>C	GRCh37
NC_000001.9:g.194982981G>C	NCBI36
NG_007259.1:g.100218G>C , LRG_47:g.100218G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4639G>C
ENST00000695970.1:c.3437G>C	ENSP00000512297.1:p.Gly1146Ala
ENST00000695971.1:c.3590G>C	ENSP00000512298.1:p.Gly1197Ala
ENST00000695972.1:c.*688G>C	ENSP00000512299.1:n.*688G>C
ENST00000695973.1:c.*1975G>C	ENSP00000512300.1:n.*1975G>C
ENST00000695974.1:c.3434G>C	ENSP00000512301.1:p.Gly1145Ala
ENST00000695975.1:c.*1738G>C	ENSP00000512302.1:n.*1738G>C
ENST00000695976.1:c.3422G>C	ENSP00000512303.1:p.Gly1141Ala
ENST00000695981.1:c.3580+31G>C	ENSP00000512306.1:n.3580+31G>C
ENST00000695984.1:c.1619G>C	ENSP00000512309.1:p.Gly540Ala
ENST00000695986.1:c.*3262G>C	ENSP00000512311.1:n.*3262G>C
ENST00000695990.1:n.645G>C
ENST00000696026.1:c.*1893G>C	ENSP00000512335.1:n.*1893G>C
ENST00000696027.1:c.3605G>C	ENSP00000512336.1:p.Gly1202Ala
ENST00000696028.1:c.3539G>C	ENSP00000512337.1:p.Gly1180Ala
ENST00000696029.1:c.3605G>C	ENSP00000512338.1:p.Gly1202Ala
ENST00000696031.1:c.*3129G>C	ENSP00000512340.1:n.*3129G>C
ENST00000696032.1:c.3580+31G>C	ENSP00000512341.1:n.3580+31G>C
ENST00000696033.1:c.1160-32569G>C	ENSP00000512342.1:n.1160-32569G>C
ENST00000367429.9:c.3611G>C MANE Select	ENSP00000356399.4:p.Gly1204Ala
ENST00000367429.8:c.3611G>C	ENSP00000356399.4:p.Gly1204Ala
ENST00000466229.5:n.6709G>C
NM_000186.3:c.3611G>C , LRG_47t1:c.3611G>C	NP_000177.2:p.Gly1204Ala
XR_001737134.2:n.3797G>C
NM_000186.4:c.3611G>C MANE Select	NP_000177.2:p.Gly1204Ala