Canonical Allele Identifier: CA422663543

Gene: CFH

Linked Data

• gnomAD v4: 1-196747196-A-G
• MyVariant Identifiers: chr1:g.196716326A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747196A>G , CM000663.2:g.196747196A>G	GRCh38
NC_000001.10:g.196716326A>G , CM000663.1:g.196716326A>G	GRCh37
NC_000001.9:g.194982949A>G	NCBI36
NG_007259.1:g.100186A>G , LRG_47:g.100186A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4607A>G
ENST00000695970.1:c.3405A>G	ENSP00000512297.1:p.Thr1135=
ENST00000695971.1:c.3558A>G	ENSP00000512298.1:p.Thr1186=
ENST00000695972.1:c.*656A>G	ENSP00000512299.1:n.*656A>G
ENST00000695973.1:c.*1943A>G	ENSP00000512300.1:n.*1943A>G
ENST00000695974.1:c.3402A>G	ENSP00000512301.1:p.Thr1134=
ENST00000695975.1:c.*1706A>G	ENSP00000512302.1:n.*1706A>G
ENST00000695976.1:c.3390A>G	ENSP00000512303.1:p.Thr1130=
ENST00000695981.1:c.3579A>G	ENSP00000512306.1:p.Thr1193=
ENST00000695984.1:c.1587A>G	ENSP00000512309.1:p.Thr529=
ENST00000695986.1:c.*3230A>G	ENSP00000512311.1:n.*3230A>G
ENST00000695990.1:n.613A>G
ENST00000696026.1:c.*1861A>G	ENSP00000512335.1:n.*1861A>G
ENST00000696027.1:c.3573A>G	ENSP00000512336.1:p.Thr1191=
ENST00000696028.1:c.3507A>G	ENSP00000512337.1:p.Thr1169=
ENST00000696029.1:c.3573A>G	ENSP00000512338.1:p.Thr1191=
ENST00000696031.1:c.*3097A>G	ENSP00000512340.1:n.*3097A>G
ENST00000696032.1:c.3579A>G	ENSP00000512341.1:p.Thr1193=
ENST00000696033.1:c.1160-32601A>G	ENSP00000512342.1:n.1160-32601A>G
ENST00000367429.9:c.3579A>G MANE Select	ENSP00000356399.4:p.Thr1193=
ENST00000367429.8:c.3579A>G	ENSP00000356399.4:p.Thr1193=
ENST00000466229.5:n.6677A>G
NM_000186.3:c.3579A>G , LRG_47t1:c.3579A>G	NP_000177.2:p.Thr1193=
XR_001737134.2:n.3765A>G
NM_000186.4:c.3579A>G MANE Select	NP_000177.2:p.Thr1193=