Canonical Allele Identifier: CA422663520

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716305A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747175A>G , CM000663.2:g.196747175A>G	GRCh38
NC_000001.10:g.196716305A>G , CM000663.1:g.196716305A>G	GRCh37
NC_000001.9:g.194982928A>G	NCBI36
NG_007259.1:g.100165A>G , LRG_47:g.100165A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4586A>G
ENST00000695970.1:c.3384A>G	ENSP00000512297.1:p.Lys1128=
ENST00000695971.1:c.3537A>G	ENSP00000512298.1:p.Lys1179=
ENST00000695972.1:c.*635A>G	ENSP00000512299.1:n.*635A>G
ENST00000695973.1:c.*1922A>G	ENSP00000512300.1:n.*1922A>G
ENST00000695974.1:c.3381A>G	ENSP00000512301.1:p.Lys1127=
ENST00000695975.1:c.*1685A>G	ENSP00000512302.1:n.*1685A>G
ENST00000695976.1:c.3369A>G	ENSP00000512303.1:p.Lys1123=
ENST00000695981.1:c.3558A>G	ENSP00000512306.1:p.Lys1186=
ENST00000695984.1:c.1566A>G	ENSP00000512309.1:p.Lys522=
ENST00000695986.1:c.*3209A>G	ENSP00000512311.1:n.*3209A>G
ENST00000695990.1:n.592A>G
ENST00000696026.1:c.*1840A>G	ENSP00000512335.1:n.*1840A>G
ENST00000696027.1:c.3552A>G	ENSP00000512336.1:p.Lys1184=
ENST00000696028.1:c.3486A>G	ENSP00000512337.1:p.Lys1162=
ENST00000696029.1:c.3552A>G	ENSP00000512338.1:p.Lys1184=
ENST00000696031.1:c.*3076A>G	ENSP00000512340.1:n.*3076A>G
ENST00000696032.1:c.3558A>G	ENSP00000512341.1:p.Lys1186=
ENST00000696033.1:c.1160-32622A>G	ENSP00000512342.1:n.1160-32622A>G
ENST00000367429.9:c.3558A>G MANE Select	ENSP00000356399.4:p.Lys1186=
ENST00000367429.8:c.3558A>G	ENSP00000356399.4:p.Lys1186=
ENST00000466229.5:n.6656A>G
NM_000186.3:c.3558A>G , LRG_47t1:c.3558A>G	NP_000177.2:p.Lys1186=
XR_001737134.2:n.3744A>G
NM_000186.4:c.3558A>G MANE Select	NP_000177.2:p.Lys1186=