Canonical Allele Identifier: CA343988177

Gene: CFH

Linked Data

• gnomAD v4: 1-196747254-A-G
• MyVariant Identifiers: chr1:g.196716384A>G (hg19) ; chr1:g.196747254A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747254A>G , CM000663.2:g.196747254A>G	GRCh38
NC_000001.10:g.196716384A>G , CM000663.1:g.196716384A>G	GRCh37
NC_000001.9:g.194983007A>G	NCBI36
NG_007259.1:g.100244A>G , LRG_47:g.100244A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4665A>G
ENST00000695970.1:c.3463A>G	ENSP00000512297.1:p.Thr1155Ala
ENST00000695971.1:c.3616A>G	ENSP00000512298.1:p.Thr1206Ala
ENST00000695972.1:c.*714A>G	ENSP00000512299.1:n.*714A>G
ENST00000695973.1:c.*2001A>G	ENSP00000512300.1:n.*2001A>G
ENST00000695974.1:c.3460A>G	ENSP00000512301.1:p.Thr1154Ala
ENST00000695975.1:c.*1764A>G	ENSP00000512302.1:n.*1764A>G
ENST00000695976.1:c.3448A>G	ENSP00000512303.1:p.Thr1150Ala
ENST00000695981.1:c.3580+57A>G	ENSP00000512306.1:n.3580+57A>G
ENST00000695984.1:c.1645A>G	ENSP00000512309.1:p.Thr549Ala
ENST00000695986.1:c.*3288A>G	ENSP00000512311.1:n.*3288A>G
ENST00000695990.1:n.671A>G
ENST00000696026.1:c.*1919A>G	ENSP00000512335.1:n.*1919A>G
ENST00000696027.1:c.3631A>G	ENSP00000512336.1:p.Thr1211Ala
ENST00000696028.1:c.3565A>G	ENSP00000512337.1:p.Thr1189Ala
ENST00000696029.1:c.3631A>G	ENSP00000512338.1:p.Thr1211Ala
ENST00000696031.1:c.*3155A>G	ENSP00000512340.1:n.*3155A>G
ENST00000696032.1:c.3580+57A>G	ENSP00000512341.1:n.3580+57A>G
ENST00000696033.1:c.1160-32543A>G	ENSP00000512342.1:n.1160-32543A>G
ENST00000367429.9:c.3637A>G MANE Select	ENSP00000356399.4:p.Thr1213Ala
ENST00000367429.8:c.3637A>G	ENSP00000356399.4:p.Thr1213Ala
ENST00000466229.5:n.6735A>G
NM_000186.3:c.3637A>G , LRG_47t1:c.3637A>G	NP_000177.2:p.Thr1213Ala
XR_001737134.2:n.3823A>G
NM_000186.4:c.3637A>G MANE Select	NP_000177.2:p.Thr1213Ala