Canonical Allele Identifier: CA1305854

Gene: CFH

Linked Data

• dbSNP Id: rs760212152
• ExAC: 1:196712589 C / G
• gnomAD v2: 1-196712589-C-G
• gnomAD v3: 1-196743459-C-G
• gnomAD v4: 1-196743459-C-G
• MyVariant Identifiers: chr1:g.196712589C>G (hg19) ; chr1:g.196743459C>G (hg38)

Genomic Alleles

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

Transcript Alleles

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