Canonical Allele Identifier: CA343987611

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716312C>G (hg19) ; chr1:g.196747182C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747182C>G , CM000663.2:g.196747182C>G	GRCh38
NC_000001.10:g.196716312C>G , CM000663.1:g.196716312C>G	GRCh37
NC_000001.9:g.194982935C>G	NCBI36
NG_007259.1:g.100172C>G , LRG_47:g.100172C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4593C>G
ENST00000695970.1:c.3391C>G	ENSP00000512297.1:p.Leu1131Val
ENST00000695971.1:c.3544C>G	ENSP00000512298.1:p.Leu1182Val
ENST00000695972.1:c.*642C>G	ENSP00000512299.1:n.*642C>G
ENST00000695973.1:c.*1929C>G	ENSP00000512300.1:n.*1929C>G
ENST00000695974.1:c.3388C>G	ENSP00000512301.1:p.Leu1130Val
ENST00000695975.1:c.*1692C>G	ENSP00000512302.1:n.*1692C>G
ENST00000695976.1:c.3376C>G	ENSP00000512303.1:p.Leu1126Val
ENST00000695981.1:c.3565C>G	ENSP00000512306.1:p.Leu1189Val
ENST00000695984.1:c.1573C>G	ENSP00000512309.1:p.Leu525Val
ENST00000695986.1:c.*3216C>G	ENSP00000512311.1:n.*3216C>G
ENST00000695990.1:n.599C>G
ENST00000696026.1:c.*1847C>G	ENSP00000512335.1:n.*1847C>G
ENST00000696027.1:c.3559C>G	ENSP00000512336.1:p.Leu1187Val
ENST00000696028.1:c.3493C>G	ENSP00000512337.1:p.Leu1165Val
ENST00000696029.1:c.3559C>G	ENSP00000512338.1:p.Leu1187Val
ENST00000696031.1:c.*3083C>G	ENSP00000512340.1:n.*3083C>G
ENST00000696032.1:c.3565C>G	ENSP00000512341.1:p.Leu1189Val
ENST00000696033.1:c.1160-32615C>G	ENSP00000512342.1:n.1160-32615C>G
ENST00000367429.9:c.3565C>G MANE Select	ENSP00000356399.4:p.Leu1189Val
ENST00000367429.8:c.3565C>G	ENSP00000356399.4:p.Leu1189Val
ENST00000466229.5:n.6663C>G
NM_000186.3:c.3565C>G , LRG_47t1:c.3565C>G	NP_000177.2:p.Leu1189Val
XR_001737134.2:n.3751C>G
NM_000186.4:c.3565C>G MANE Select	NP_000177.2:p.Leu1189Val