Canonical Allele Identifier: CA422662925

Gene: CFH

Linked Data

• gnomAD v4: 1-196743555-C-T
• MyVariant Identifiers: chr1:g.196712685C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743555C>T , CM000663.2:g.196743555C>T	GRCh38
NC_000001.10:g.196712685C>T , CM000663.1:g.196712685C>T	GRCh37
NC_000001.9:g.194979308C>T	NCBI36
NG_007259.1:g.96545C>T , LRG_47:g.96545C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4265C>T
ENST00000695970.1:c.3063C>T	ENSP00000512297.1:p.Ser1021=
ENST00000695971.1:c.3216C>T	ENSP00000512298.1:p.Ser1072=
ENST00000695972.1:c.*314C>T	ENSP00000512299.1:n.*314C>T
ENST00000695973.1:c.*1601C>T	ENSP00000512300.1:n.*1601C>T
ENST00000695974.1:c.3060C>T	ENSP00000512301.1:p.Ser1020=
ENST00000695975.1:c.*1364C>T	ENSP00000512302.1:n.*1364C>T
ENST00000695976.1:c.3048C>T	ENSP00000512303.1:p.Ser1016=
ENST00000695981.1:c.3237C>T	ENSP00000512306.1:p.Ser1079=
ENST00000695984.1:c.1245C>T	ENSP00000512309.1:p.Ser415=
ENST00000695986.1:c.*2888C>T	ENSP00000512311.1:n.*2888C>T
ENST00000696026.1:c.*1519C>T	ENSP00000512335.1:n.*1519C>T
ENST00000696027.1:c.3231C>T	ENSP00000512336.1:p.Ser1077=
ENST00000696028.1:c.3165C>T	ENSP00000512337.1:p.Ser1055=
ENST00000696029.1:c.3231C>T	ENSP00000512338.1:p.Ser1077=
ENST00000696031.1:c.*2755C>T	ENSP00000512340.1:n.*2755C>T
ENST00000696032.1:c.3237C>T	ENSP00000512341.1:p.Ser1079=
ENST00000696033.1:c.1160-36242C>T	ENSP00000512342.1:n.1160-36242C>T
ENST00000367429.9:c.3237C>T MANE Select	ENSP00000356399.4:p.Ser1079=
ENST00000367429.8:c.3237C>T	ENSP00000356399.4:p.Ser1079=
ENST00000466229.5:n.6335C>T
NM_000186.3:c.3237C>T , LRG_47t1:c.3237C>T	NP_000177.2:p.Ser1079=
XR_001737134.2:n.3423C>T
NM_000186.4:c.3237C>T MANE Select	NP_000177.2:p.Ser1079=