Canonical Allele Identifier: CA422662849

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712589C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743459C>A , CM000663.2:g.196743459C>A	GRCh38
NC_000001.10:g.196712589C>A , CM000663.1:g.196712589C>A	GRCh37
NC_000001.9:g.194979212C>A	NCBI36
NG_007259.1:g.96449C>A , LRG_47:g.96449C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4169C>A
ENST00000695970.1:c.2967C>A	ENSP00000512297.1:p.Ser989=
ENST00000695971.1:c.3120C>A	ENSP00000512298.1:p.Ser1040=
ENST00000695972.1:c.*218C>A	ENSP00000512299.1:n.*218C>A
ENST00000695973.1:c.*1505C>A	ENSP00000512300.1:n.*1505C>A
ENST00000695974.1:c.2964C>A	ENSP00000512301.1:p.Ser988=
ENST00000695975.1:c.*1268C>A	ENSP00000512302.1:n.*1268C>A
ENST00000695976.1:c.2952C>A	ENSP00000512303.1:p.Ser984=
ENST00000695981.1:c.3141C>A	ENSP00000512306.1:p.Ser1047=
ENST00000695984.1:c.1149C>A	ENSP00000512309.1:p.Ser383=
ENST00000695986.1:c.*2792C>A	ENSP00000512311.1:n.*2792C>A
ENST00000696026.1:c.*1423C>A	ENSP00000512335.1:n.*1423C>A
ENST00000696027.1:c.3135C>A	ENSP00000512336.1:p.Ser1045=
ENST00000696028.1:c.3069C>A	ENSP00000512337.1:p.Ser1023=
ENST00000696029.1:c.3135C>A	ENSP00000512338.1:p.Ser1045=
ENST00000696031.1:c.*2659C>A	ENSP00000512340.1:n.*2659C>A
ENST00000696032.1:c.3141C>A	ENSP00000512341.1:p.Ser1047=
ENST00000696033.1:c.1160-36338C>A	ENSP00000512342.1:n.1160-36338C>A
ENST00000367429.9:c.3141C>A MANE Select	ENSP00000356399.4:p.Ser1047=
ENST00000367429.8:c.3141C>A	ENSP00000356399.4:p.Ser1047=
ENST00000466229.5:n.6239C>A
NM_000186.3:c.3141C>A , LRG_47t1:c.3141C>A	NP_000177.2:p.Ser1047=
XR_001737134.2:n.3327C>A
NM_000186.4:c.3141C>A MANE Select	NP_000177.2:p.Ser1047=