Canonical Allele Identifier: CA528534109

Gene: CFH

Linked Data

• dbSNP Id: rs1180820411
• gnomAD v2: 1-196712584-ACCT-A
• gnomAD v4: 1-196743454-ACCT-A
• MyVariant Identifiers: chr1:g.196712585_196712587del (hg19) ; chr1:g.196743455_196743457del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743458_196743460del , CM000663.2:g.196743458_196743460del	GRCh38
NC_000001.10:g.196712588_196712590del , CM000663.1:g.196712588_196712590del	GRCh37
NC_000001.9:g.194979211_194979213del	NCBI36
NG_007259.1:g.96448_96450del , LRG_47:g.96448_96450del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4168_4170del
ENST00000695970.1:c.2966_2968del	ENSP00000512297.1:p.Ser989del
ENST00000695971.1:c.3119_3121del	ENSP00000512298.1:p.Ser1040del
ENST00000695972.1:c.*217_*219del	ENSP00000512299.1:n.*217_*219del
ENST00000695973.1:c.*1504_*1506del	ENSP00000512300.1:n.*1504_*1506del
ENST00000695974.1:c.2963_2965del	ENSP00000512301.1:p.Ser988del
ENST00000695975.1:c.*1267_*1269del	ENSP00000512302.1:n.*1267_*1269del
ENST00000695976.1:c.2951_2953del	ENSP00000512303.1:p.Ser984del
ENST00000695981.1:c.3140_3142del	ENSP00000512306.1:p.Ser1047del
ENST00000695984.1:c.1148_1150del	ENSP00000512309.1:p.Ser383del
ENST00000695986.1:c.*2791_*2793del	ENSP00000512311.1:n.*2791_*2793del
ENST00000696026.1:c.*1422_*1424del	ENSP00000512335.1:n.*1422_*1424del
ENST00000696027.1:c.3134_3136del	ENSP00000512336.1:p.Ser1045del
ENST00000696028.1:c.3068_3070del	ENSP00000512337.1:p.Ser1023del
ENST00000696029.1:c.3134_3136del	ENSP00000512338.1:p.Ser1045del
ENST00000696031.1:c.*2658_*2660del	ENSP00000512340.1:n.*2658_*2660del
ENST00000696032.1:c.3140_3142del	ENSP00000512341.1:p.Ser1047del
ENST00000696033.1:c.1160-36339_1160-36337del	ENSP00000512342.1:n.1160-36339_1160-36337...
ENST00000367429.9:c.3140_3142del MANE Select	ENSP00000356399.4:p.Ser1047del
ENST00000367429.8:c.3140_3142del	ENSP00000356399.4:p.Ser1047del
ENST00000466229.5:n.6238_6240del
NM_000186.3:c.3140_3142del , LRG_47t1:c.3140_3142del	NP_000177.2:p.Ser1047del
XR_001737134.2:n.3326_3328del
NM_000186.4:c.3140_3142del MANE Select	NP_000177.2:p.Ser1047del