Canonical Allele Identifier: CA729694445

Gene: CFH

Linked Data

• dbSNP Id: rs1459141735
• gnomAD v3: 1-196743234-TGAA-T
• gnomAD v4: 1-196743234-TGAA-T
• MyVariant Identifiers: chr1:g.196712365_196712367del (hg19) ; chr1:g.196743235_196743237del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743241_196743243del , CM000663.2:g.196743241_196743243del	GRCh38
NC_000001.10:g.196712371_196712373del , CM000663.1:g.196712371_196712373del	GRCh37
NC_000001.9:g.194978994_194978996del	NCBI36
NG_007259.1:g.96231_96233del , LRG_47:g.96231_96233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4162-211_4162-209del
ENST00000695970.1:c.2960-211_2960-209del	ENSP00000512297.1:n.2960-211_2960-209del
ENST00000695971.1:c.3113-211_3113-209del	ENSP00000512298.1:n.3113-211_3113-209del
ENST00000695972.1:c.*211-211_*211-209del	ENSP00000512299.1:n.*211-211_*211-209del
ENST00000695973.1:c.*1498-211_*1498-209del	ENSP00000512300.1:n.*1498-211_*1498-209del
ENST00000695974.1:c.2957-211_2957-209del	ENSP00000512301.1:n.2957-211_2957-209del
ENST00000695975.1:c.*1261-211_*1261-209del	ENSP00000512302.1:n.*1261-211_*1261-209del
ENST00000695976.1:c.2945-211_2945-209del	ENSP00000512303.1:n.2945-211_2945-209del
ENST00000695981.1:c.3134-211_3134-209del	ENSP00000512306.1:n.3134-211_3134-209del
ENST00000695984.1:c.1142-211_1142-209del	ENSP00000512309.1:n.1142-211_1142-209del
ENST00000695986.1:c.*2785-211_*2785-209del	ENSP00000512311.1:n.*2785-211_*2785-209del
ENST00000696026.1:c.*1416-211_*1416-209del	ENSP00000512335.1:n.*1416-211_*1416-209del
ENST00000696027.1:c.3128-211_3128-209del	ENSP00000512336.1:n.3128-211_3128-209del
ENST00000696028.1:c.3062-211_3062-209del	ENSP00000512337.1:n.3062-211_3062-209del
ENST00000696029.1:c.3128-211_3128-209del	ENSP00000512338.1:n.3128-211_3128-209del
ENST00000696031.1:c.*2652-211_*2652-209del	ENSP00000512340.1:n.*2652-211_*2652-209del
ENST00000696032.1:c.3134-211_3134-209del	ENSP00000512341.1:n.3134-211_3134-209del
ENST00000696033.1:c.1160-36556_1160-36554del	ENSP00000512342.1:n.1160-36556_1160-36554del
ENST00000367429.9:c.3134-211_3134-209del MANE Select	ENSP00000356399.4:n.3134-211_3134-209del
ENST00000367429.8:c.3134-211_3134-209del	ENSP00000356399.4:n.3134-211_3134-209del
ENST00000466229.5:n.6232-211_6232-209del
NM_000186.3:c.3134-211_3134-209del , LRG_47t1:c.3134-211_3134-209del	NP_000177.2:n.3134-211_3134-209del
XR_001737134.2:n.3320-211_3320-209del
NM_000186.4:c.3134-211_3134-209del MANE Select	NP_000177.2:n.3134-211_3134-209del