Canonical Allele Identifier: CA343984106

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712749C>A (hg19) ; chr1:g.196743619C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743619C>A , CM000663.2:g.196743619C>A	GRCh38
NC_000001.10:g.196712749C>A , CM000663.1:g.196712749C>A	GRCh37
NC_000001.9:g.194979372C>A	NCBI36
NG_007259.1:g.96609C>A , LRG_47:g.96609C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4329C>A
ENST00000695970.1:c.3127C>A	ENSP00000512297.1:p.Gln1043Lys
ENST00000695971.1:c.3280C>A	ENSP00000512298.1:p.Gln1094Lys
ENST00000695972.1:c.*378C>A	ENSP00000512299.1:n.*378C>A
ENST00000695973.1:c.*1665C>A	ENSP00000512300.1:n.*1665C>A
ENST00000695974.1:c.3124C>A	ENSP00000512301.1:p.Gln1042Lys
ENST00000695975.1:c.*1428C>A	ENSP00000512302.1:n.*1428C>A
ENST00000695976.1:c.3112C>A	ENSP00000512303.1:p.Gln1038Lys
ENST00000695981.1:c.3301C>A	ENSP00000512306.1:p.Gln1101Lys
ENST00000695984.1:c.1309C>A	ENSP00000512309.1:p.Gln437Lys
ENST00000695986.1:c.*2952C>A	ENSP00000512311.1:n.*2952C>A
ENST00000696026.1:c.*1583C>A	ENSP00000512335.1:n.*1583C>A
ENST00000696027.1:c.3295C>A	ENSP00000512336.1:p.Gln1099Lys
ENST00000696028.1:c.3229C>A	ENSP00000512337.1:p.Gln1077Lys
ENST00000696029.1:c.3295C>A	ENSP00000512338.1:p.Gln1099Lys
ENST00000696031.1:c.*2819C>A	ENSP00000512340.1:n.*2819C>A
ENST00000696032.1:c.3301C>A	ENSP00000512341.1:p.Gln1101Lys
ENST00000696033.1:c.1160-36178C>A	ENSP00000512342.1:n.1160-36178C>A
ENST00000367429.9:c.3301C>A MANE Select	ENSP00000356399.4:p.Gln1101Lys
ENST00000367429.8:c.3301C>A	ENSP00000356399.4:p.Gln1101Lys
ENST00000466229.5:n.6399C>A
NM_000186.3:c.3301C>A , LRG_47t1:c.3301C>A	NP_000177.2:p.Gln1101Lys
XR_001737134.2:n.3487C>A
NM_000186.4:c.3301C>A MANE Select	NP_000177.2:p.Gln1101Lys