Canonical Allele Identifier: CA343984012

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712731A>G (hg19) ; chr1:g.196743601A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743601A>G , CM000663.2:g.196743601A>G	GRCh38
NC_000001.10:g.196712731A>G , CM000663.1:g.196712731A>G	GRCh37
NC_000001.9:g.194979354A>G	NCBI36
NG_007259.1:g.96591A>G , LRG_47:g.96591A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4311A>G
ENST00000695970.1:c.3109A>G	ENSP00000512297.1:p.Asn1037Asp
ENST00000695971.1:c.3262A>G	ENSP00000512298.1:p.Asn1088Asp
ENST00000695972.1:c.*360A>G	ENSP00000512299.1:n.*360A>G
ENST00000695973.1:c.*1647A>G	ENSP00000512300.1:n.*1647A>G
ENST00000695974.1:c.3106A>G	ENSP00000512301.1:p.Asn1036Asp
ENST00000695975.1:c.*1410A>G	ENSP00000512302.1:n.*1410A>G
ENST00000695976.1:c.3094A>G	ENSP00000512303.1:p.Asn1032Asp
ENST00000695981.1:c.3283A>G	ENSP00000512306.1:p.Asn1095Asp
ENST00000695984.1:c.1291A>G	ENSP00000512309.1:p.Asn431Asp
ENST00000695986.1:c.*2934A>G	ENSP00000512311.1:n.*2934A>G
ENST00000696026.1:c.*1565A>G	ENSP00000512335.1:n.*1565A>G
ENST00000696027.1:c.3277A>G	ENSP00000512336.1:p.Asn1093Asp
ENST00000696028.1:c.3211A>G	ENSP00000512337.1:p.Asn1071Asp
ENST00000696029.1:c.3277A>G	ENSP00000512338.1:p.Asn1093Asp
ENST00000696031.1:c.*2801A>G	ENSP00000512340.1:n.*2801A>G
ENST00000696032.1:c.3283A>G	ENSP00000512341.1:p.Asn1095Asp
ENST00000696033.1:c.1160-36196A>G	ENSP00000512342.1:n.1160-36196A>G
ENST00000367429.9:c.3283A>G MANE Select	ENSP00000356399.4:p.Asn1095Asp
ENST00000367429.8:c.3283A>G	ENSP00000356399.4:p.Asn1095Asp
ENST00000466229.5:n.6381A>G
NM_000186.3:c.3283A>G , LRG_47t1:c.3283A>G	NP_000177.2:p.Asn1095Asp
XR_001737134.2:n.3469A>G
NM_000186.4:c.3283A>G MANE Select	NP_000177.2:p.Asn1095Asp