Canonical Allele Identifier: CA343983484

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712656G>A (hg19) ; chr1:g.196743526G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743526G>A , CM000663.2:g.196743526G>A	GRCh38
NC_000001.10:g.196712656G>A , CM000663.1:g.196712656G>A	GRCh37
NC_000001.9:g.194979279G>A	NCBI36
NG_007259.1:g.96516G>A , LRG_47:g.96516G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4236G>A
ENST00000695970.1:c.3034G>A	ENSP00000512297.1:p.Gly1012Ser
ENST00000695971.1:c.3187G>A	ENSP00000512298.1:p.Gly1063Ser
ENST00000695972.1:c.*285G>A	ENSP00000512299.1:n.*285G>A
ENST00000695973.1:c.*1572G>A	ENSP00000512300.1:n.*1572G>A
ENST00000695974.1:c.3031G>A	ENSP00000512301.1:p.Gly1011Ser
ENST00000695975.1:c.*1335G>A	ENSP00000512302.1:n.*1335G>A
ENST00000695976.1:c.3019G>A	ENSP00000512303.1:p.Gly1007Ser
ENST00000695981.1:c.3208G>A	ENSP00000512306.1:p.Gly1070Ser
ENST00000695984.1:c.1216G>A	ENSP00000512309.1:p.Gly406Ser
ENST00000695986.1:c.*2859G>A	ENSP00000512311.1:n.*2859G>A
ENST00000696026.1:c.*1490G>A	ENSP00000512335.1:n.*1490G>A
ENST00000696027.1:c.3202G>A	ENSP00000512336.1:p.Gly1068Ser
ENST00000696028.1:c.3136G>A	ENSP00000512337.1:p.Gly1046Ser
ENST00000696029.1:c.3202G>A	ENSP00000512338.1:p.Gly1068Ser
ENST00000696031.1:c.*2726G>A	ENSP00000512340.1:n.*2726G>A
ENST00000696032.1:c.3208G>A	ENSP00000512341.1:p.Gly1070Ser
ENST00000696033.1:c.1160-36271G>A	ENSP00000512342.1:n.1160-36271G>A
ENST00000367429.9:c.3208G>A MANE Select	ENSP00000356399.4:p.Gly1070Ser
ENST00000367429.8:c.3208G>A	ENSP00000356399.4:p.Gly1070Ser
ENST00000466229.5:n.6306G>A
NM_000186.3:c.3208G>A , LRG_47t1:c.3208G>A	NP_000177.2:p.Gly1070Ser
XR_001737134.2:n.3394G>A
NM_000186.4:c.3208G>A MANE Select	NP_000177.2:p.Gly1070Ser