Canonical Allele Identifier: CA729697066

Gene: CFH

Linked Data

• dbSNP Id: rs1366190147
• gnomAD v3: 1-196746932-CA-C
• gnomAD v4: 1-196746932-CA-C
• MyVariant Identifiers: chr1:g.196716063del (hg19) ; chr1:g.196746933del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196746933del , CM000663.2:g.196746933del	GRCh38
NC_000001.10:g.196716063del , CM000663.1:g.196716063del	GRCh37
NC_000001.9:g.194982686del	NCBI36
NG_007259.1:g.99923del , LRG_47:g.99923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4522-178del
ENST00000695970.1:c.3320-178del	ENSP00000512297.1:n.3320-178del
ENST00000695971.1:c.3473-178del	ENSP00000512298.1:n.3473-178del
ENST00000695972.1:c.*571-178del	ENSP00000512299.1:n.*571-178del
ENST00000695973.1:c.*1858-178del	ENSP00000512300.1:n.*1858-178del
ENST00000695974.1:c.3317-178del	ENSP00000512301.1:n.3317-178del
ENST00000695975.1:c.*1621-178del	ENSP00000512302.1:n.*1621-178del
ENST00000695976.1:c.3305-178del	ENSP00000512303.1:n.3305-178del
ENST00000695981.1:c.3494-178del	ENSP00000512306.1:n.3494-178del
ENST00000695984.1:c.1502-178del	ENSP00000512309.1:n.1502-178del
ENST00000695986.1:c.*3145-178del	ENSP00000512311.1:n.*3145-178del
ENST00000695990.1:n.528-178del
ENST00000696026.1:c.*1776-178del	ENSP00000512335.1:n.*1776-178del
ENST00000696027.1:c.3488-178del	ENSP00000512336.1:n.3488-178del
ENST00000696028.1:c.3422-178del	ENSP00000512337.1:n.3422-178del
ENST00000696029.1:c.3488-178del	ENSP00000512338.1:n.3488-178del
ENST00000696031.1:c.*3012-178del	ENSP00000512340.1:n.*3012-178del
ENST00000696032.1:c.3494-178del	ENSP00000512341.1:n.3494-178del
ENST00000696033.1:c.1160-32864del	ENSP00000512342.1:n.1160-32864del
ENST00000367429.9:c.3494-178del MANE Select	ENSP00000356399.4:n.3494-178del
ENST00000367429.8:c.3494-178del	ENSP00000356399.4:n.3494-178del
ENST00000466229.5:n.6592-178del
NM_000186.3:c.3494-178del , LRG_47t1:c.3494-178del	NP_000177.2:n.3494-178del
XR_001737134.2:n.3680-178del
NM_000186.4:c.3494-178del MANE Select	NP_000177.2:n.3494-178del