Canonical Allele Identifier: CA343987488

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716301C>G (hg19) ; chr1:g.196747171C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747171C>G , CM000663.2:g.196747171C>G	GRCh38
NC_000001.10:g.196716301C>G , CM000663.1:g.196716301C>G	GRCh37
NC_000001.9:g.194982924C>G	NCBI36
NG_007259.1:g.100161C>G , LRG_47:g.100161C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4582C>G
ENST00000695970.1:c.3380C>G	ENSP00000512297.1:p.Ala1127Gly
ENST00000695971.1:c.3533C>G	ENSP00000512298.1:p.Ala1178Gly
ENST00000695972.1:c.*631C>G	ENSP00000512299.1:n.*631C>G
ENST00000695973.1:c.*1918C>G	ENSP00000512300.1:n.*1918C>G
ENST00000695974.1:c.3377C>G	ENSP00000512301.1:p.Ala1126Gly
ENST00000695975.1:c.*1681C>G	ENSP00000512302.1:n.*1681C>G
ENST00000695976.1:c.3365C>G	ENSP00000512303.1:p.Ala1122Gly
ENST00000695981.1:c.3554C>G	ENSP00000512306.1:p.Ala1185Gly
ENST00000695984.1:c.1562C>G	ENSP00000512309.1:p.Ala521Gly
ENST00000695986.1:c.*3205C>G	ENSP00000512311.1:n.*3205C>G
ENST00000695990.1:n.588C>G
ENST00000696026.1:c.*1836C>G	ENSP00000512335.1:n.*1836C>G
ENST00000696027.1:c.3548C>G	ENSP00000512336.1:p.Ala1183Gly
ENST00000696028.1:c.3482C>G	ENSP00000512337.1:p.Ala1161Gly
ENST00000696029.1:c.3548C>G	ENSP00000512338.1:p.Ala1183Gly
ENST00000696031.1:c.*3072C>G	ENSP00000512340.1:n.*3072C>G
ENST00000696032.1:c.3554C>G	ENSP00000512341.1:p.Ala1185Gly
ENST00000696033.1:c.1160-32626C>G	ENSP00000512342.1:n.1160-32626C>G
ENST00000367429.9:c.3554C>G MANE Select	ENSP00000356399.4:p.Ala1185Gly
ENST00000367429.8:c.3554C>G	ENSP00000356399.4:p.Ala1185Gly
ENST00000466229.5:n.6652C>G
NM_000186.3:c.3554C>G , LRG_47t1:c.3554C>G	NP_000177.2:p.Ala1185Gly
XR_001737134.2:n.3740C>G
NM_000186.4:c.3554C>G MANE Select	NP_000177.2:p.Ala1185Gly