Canonical Allele Identifier: CA2649647303

Gene: CFH

Linked Data

• gnomAD v4: 1-196747389-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747393del , CM000663.2:g.196747393del	GRCh38
NC_000001.10:g.196716523del , CM000663.1:g.196716523del	GRCh37
NC_000001.9:g.194983146del	NCBI36
NG_007259.1:g.100383del , LRG_47:g.100383del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4804del
ENST00000695970.1:c.*80del	ENSP00000512297.1:n.*80del
ENST00000695971.1:c.*80del	ENSP00000512298.1:n.*80del
ENST00000695972.1:c.*853del	ENSP00000512299.1:n.*853del
ENST00000695973.1:c.*2140del	ENSP00000512300.1:n.*2140del
ENST00000695974.1:c.*80del	ENSP00000512301.1:n.*80del
ENST00000695975.1:c.*1903del	ENSP00000512302.1:n.*1903del
ENST00000695976.1:c.*80del	ENSP00000512303.1:n.*80del
ENST00000695981.1:c.3580+196del	ENSP00000512306.1:n.3580+196del
ENST00000695984.1:c.*80del	ENSP00000512309.1:n.*80del
ENST00000695986.1:c.*3427del	ENSP00000512311.1:n.*3427del
ENST00000695990.1:n.810del
ENST00000696026.1:c.*2058del	ENSP00000512335.1:n.*2058del
ENST00000696027.1:c.*80del	ENSP00000512336.1:n.*80del
ENST00000696028.1:c.*80del	ENSP00000512337.1:n.*80del
ENST00000696029.1:c.*80del	ENSP00000512338.1:n.*80del
ENST00000696031.1:c.*3294del	ENSP00000512340.1:n.*3294del
ENST00000696032.1:c.3580+196del	ENSP00000512341.1:n.3580+196del
ENST00000696033.1:c.1160-32404del	ENSP00000512342.1:n.1160-32404del
ENST00000367429.9:c.*80del MANE Select	ENSP00000356399.4:n.*80del
ENST00000367429.8:c.*80del	ENSP00000356399.4:n.*80del
ENST00000466229.5:n.6874del
NM_000186.3:c.*80del , LRG_47t1:c.*80del	NP_000177.2:n.*80del
XR_001737134.2:n.3962del
NM_000186.4:c.*80del MANE Select	NP_000177.2:n.*80del