Canonical Allele Identifier: CA343983678

Gene: CFH

Linked Data

• dbSNP Id: rs1652890167
• MyVariant Identifiers: chr1:g.196712683A>G (hg19) ; chr1:g.196743553A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743553A>G , CM000663.2:g.196743553A>G	GRCh38
NC_000001.10:g.196712683A>G , CM000663.1:g.196712683A>G	GRCh37
NC_000001.9:g.194979306A>G	NCBI36
NG_007259.1:g.96543A>G , LRG_47:g.96543A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4263A>G
ENST00000695970.1:c.3061A>G	ENSP00000512297.1:p.Ser1021Gly
ENST00000695971.1:c.3214A>G	ENSP00000512298.1:p.Ser1072Gly
ENST00000695972.1:c.*312A>G	ENSP00000512299.1:n.*312A>G
ENST00000695973.1:c.*1599A>G	ENSP00000512300.1:n.*1599A>G
ENST00000695974.1:c.3058A>G	ENSP00000512301.1:p.Ser1020Gly
ENST00000695975.1:c.*1362A>G	ENSP00000512302.1:n.*1362A>G
ENST00000695976.1:c.3046A>G	ENSP00000512303.1:p.Ser1016Gly
ENST00000695981.1:c.3235A>G	ENSP00000512306.1:p.Ser1079Gly
ENST00000695984.1:c.1243A>G	ENSP00000512309.1:p.Ser415Gly
ENST00000695986.1:c.*2886A>G	ENSP00000512311.1:n.*2886A>G
ENST00000696026.1:c.*1517A>G	ENSP00000512335.1:n.*1517A>G
ENST00000696027.1:c.3229A>G	ENSP00000512336.1:p.Ser1077Gly
ENST00000696028.1:c.3163A>G	ENSP00000512337.1:p.Ser1055Gly
ENST00000696029.1:c.3229A>G	ENSP00000512338.1:p.Ser1077Gly
ENST00000696031.1:c.*2753A>G	ENSP00000512340.1:n.*2753A>G
ENST00000696032.1:c.3235A>G	ENSP00000512341.1:p.Ser1079Gly
ENST00000696033.1:c.1160-36244A>G	ENSP00000512342.1:n.1160-36244A>G
ENST00000367429.9:c.3235A>G MANE Select	ENSP00000356399.4:p.Ser1079Gly
ENST00000367429.8:c.3235A>G	ENSP00000356399.4:p.Ser1079Gly
ENST00000466229.5:n.6333A>G
NM_000186.3:c.3235A>G , LRG_47t1:c.3235A>G	NP_000177.2:p.Ser1079Gly
XR_001737134.2:n.3421A>G
NM_000186.4:c.3235A>G MANE Select	NP_000177.2:p.Ser1079Gly