Canonical Allele Identifier: CA343983488

Gene: CFH

Linked Data

• gnomAD v4: 1-196743526-G-T
• MyVariant Identifiers: chr1:g.196712656G>T (hg19) ; chr1:g.196743526G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4236G>T
ENST00000695970.1:c.3034G>T	ENSP00000512297.1:p.Gly1012Cys
ENST00000695971.1:c.3187G>T	ENSP00000512298.1:p.Gly1063Cys
ENST00000695972.1:c.*285G>T	ENSP00000512299.1:n.*285G>T
ENST00000695973.1:c.*1572G>T	ENSP00000512300.1:n.*1572G>T
ENST00000695974.1:c.3031G>T	ENSP00000512301.1:p.Gly1011Cys
ENST00000695975.1:c.*1335G>T	ENSP00000512302.1:n.*1335G>T
ENST00000695976.1:c.3019G>T	ENSP00000512303.1:p.Gly1007Cys
ENST00000695981.1:c.3208G>T	ENSP00000512306.1:p.Gly1070Cys
ENST00000695984.1:c.1216G>T	ENSP00000512309.1:p.Gly406Cys
ENST00000695986.1:c.*2859G>T	ENSP00000512311.1:n.*2859G>T
ENST00000696026.1:c.*1490G>T	ENSP00000512335.1:n.*1490G>T
ENST00000696027.1:c.3202G>T	ENSP00000512336.1:p.Gly1068Cys
ENST00000696028.1:c.3136G>T	ENSP00000512337.1:p.Gly1046Cys
ENST00000696029.1:c.3202G>T	ENSP00000512338.1:p.Gly1068Cys
ENST00000696031.1:c.*2726G>T	ENSP00000512340.1:n.*2726G>T
ENST00000696032.1:c.3208G>T	ENSP00000512341.1:p.Gly1070Cys
ENST00000696033.1:c.1160-36271G>T	ENSP00000512342.1:n.1160-36271G>T
ENST00000367429.9:c.3208G>T MANE Select	ENSP00000356399.4:p.Gly1070Cys
ENST00000367429.8:c.3208G>T	ENSP00000356399.4:p.Gly1070Cys
ENST00000466229.5:n.6306G>T
NM_000186.3:c.3208G>T , LRG_47t1:c.3208G>T	NP_000177.2:p.Gly1070Cys
XR_001737134.2:n.3394G>T
NM_000186.4:c.3208G>T MANE Select	NP_000177.2:p.Gly1070Cys