Canonical Allele Identifier: CA343982846

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712598T>G (hg19) ; chr1:g.196743468T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743468T>G , CM000663.2:g.196743468T>G	GRCh38
NC_000001.10:g.196712598T>G , CM000663.1:g.196712598T>G	GRCh37
NC_000001.9:g.194979221T>G	NCBI36
NG_007259.1:g.96458T>G , LRG_47:g.96458T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4178T>G
ENST00000695970.1:c.2976T>G	ENSP00000512297.1:p.Asn992Lys
ENST00000695971.1:c.3129T>G	ENSP00000512298.1:p.Asn1043Lys
ENST00000695972.1:c.*227T>G	ENSP00000512299.1:n.*227T>G
ENST00000695973.1:c.*1514T>G	ENSP00000512300.1:n.*1514T>G
ENST00000695974.1:c.2973T>G	ENSP00000512301.1:p.Asn991Lys
ENST00000695975.1:c.*1277T>G	ENSP00000512302.1:n.*1277T>G
ENST00000695976.1:c.2961T>G	ENSP00000512303.1:p.Asn987Lys
ENST00000695981.1:c.3150T>G	ENSP00000512306.1:p.Asn1050Lys
ENST00000695984.1:c.1158T>G	ENSP00000512309.1:p.Asn386Lys
ENST00000695986.1:c.*2801T>G	ENSP00000512311.1:n.*2801T>G
ENST00000696026.1:c.*1432T>G	ENSP00000512335.1:n.*1432T>G
ENST00000696027.1:c.3144T>G	ENSP00000512336.1:p.Asn1048Lys
ENST00000696028.1:c.3078T>G	ENSP00000512337.1:p.Asn1026Lys
ENST00000696029.1:c.3144T>G	ENSP00000512338.1:p.Asn1048Lys
ENST00000696031.1:c.*2668T>G	ENSP00000512340.1:n.*2668T>G
ENST00000696032.1:c.3150T>G	ENSP00000512341.1:p.Asn1050Lys
ENST00000696033.1:c.1160-36329T>G	ENSP00000512342.1:n.1160-36329T>G
ENST00000367429.9:c.3150T>G MANE Select	ENSP00000356399.4:p.Asn1050Lys
ENST00000367429.8:c.3150T>G	ENSP00000356399.4:p.Asn1050Lys
ENST00000466229.5:n.6248T>G
NM_000186.3:c.3150T>G , LRG_47t1:c.3150T>G	NP_000177.2:p.Asn1050Lys
XR_001737134.2:n.3336T>G
NM_000186.4:c.3150T>G MANE Select	NP_000177.2:p.Asn1050Lys