Canonical Allele Identifier: CA1217767713

Gene: CFH

Linked Data

• dbSNP Id: rs1652786331
• gnomAD v4: 1-196740807-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196740811del , CM000663.2:g.196740811del	GRCh38
NC_000001.10:g.196709941del , CM000663.1:g.196709941del	GRCh37
NC_000001.9:g.194976564del	NCBI36
NG_007259.1:g.93801del , LRG_47:g.93801del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.3241del
ENST00000695970.1:c.2783-1064del	ENSP00000512297.1:n.2783-1064del
ENST00000695971.1:c.2935+19del	ENSP00000512298.1:n.2935+19del
ENST00000695972.1:c.*33+19del	ENSP00000512299.1:n.*33+19del
ENST00000695973.1:c.*1320+19del	ENSP00000512300.1:n.*1320+19del
ENST00000695974.1:c.2779+19del	ENSP00000512301.1:n.2779+19del
ENST00000695975.1:c.*1083+19del	ENSP00000512302.1:n.*1083+19del
ENST00000695976.1:c.2767+19del	ENSP00000512303.1:n.2767+19del
ENST00000695981.1:c.2956+19del	ENSP00000512306.1:n.2956+19del
ENST00000695983.1:c.2862+113del	ENSP00000512308.1:n.2862+113del
ENST00000695984.1:c.964+19del	ENSP00000512309.1:n.964+19del
ENST00000695986.1:c.*2607+19del	ENSP00000512311.1:n.*2607+19del
ENST00000696025.1:n.3059del
ENST00000696026.1:c.*1238+19del	ENSP00000512335.1:n.*1238+19del
ENST00000696027.1:c.2950+19del	ENSP00000512336.1:n.2950+19del
ENST00000696028.1:c.2884+91del	ENSP00000512337.1:n.2884+91del
ENST00000696029.1:c.2956+19del	ENSP00000512338.1:n.2956+19del
ENST00000696031.1:c.*2474+19del	ENSP00000512340.1:n.*2474+19del
ENST00000696032.1:c.2956+19del	ENSP00000512341.1:n.2956+19del
ENST00000696033.1:c.1160-38986del	ENSP00000512342.1:n.1160-38986del
ENST00000367429.9:c.2956+19del MANE Select	ENSP00000356399.4:n.2956+19del
ENST00000367429.8:c.2956+19del	ENSP00000356399.4:n.2956+19del
ENST00000466229.5:n.4991del
ENST00000470918.1:n.478del
NM_000186.3:c.2956+19del , LRG_47t1:c.2956+19del	NP_000177.2:n.2956+19del
XR_001737134.2:n.3142+19del
NM_000186.4:c.2956+19del MANE Select	NP_000177.2:n.2956+19del