Canonical Allele Identifier: CA729694379

Gene: CFH

Linked Data

• dbSNP Id: rs1264797403
• gnomAD v3: 1-196743082-GCTGA-G
• gnomAD v4: 1-196743082-GCTGA-G
• MyVariant Identifiers: chr1:g.196712213_196712216del (hg19) ; chr1:g.196743083_196743086del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743085_196743088del , CM000663.2:g.196743085_196743088del	GRCh38
NC_000001.10:g.196712215_196712218del , CM000663.1:g.196712215_196712218del	GRCh37
NC_000001.9:g.194978838_194978841del	NCBI36
NG_007259.1:g.96075_96078del , LRG_47:g.96075_96078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4162-367_4162-364del
ENST00000695970.1:c.2960-367_2960-364del	ENSP00000512297.1:n.2960-367_2960-364del
ENST00000695971.1:c.3113-367_3113-364del	ENSP00000512298.1:n.3113-367_3113-364del
ENST00000695972.1:c.*211-367_*211-364del	ENSP00000512299.1:n.*211-367_*211-364del
ENST00000695973.1:c.*1498-367_*1498-364del	ENSP00000512300.1:n.*1498-367_*1498-364del
ENST00000695974.1:c.2957-367_2957-364del	ENSP00000512301.1:n.2957-367_2957-364del
ENST00000695975.1:c.*1261-367_*1261-364del	ENSP00000512302.1:n.*1261-367_*1261-364del
ENST00000695976.1:c.2945-367_2945-364del	ENSP00000512303.1:n.2945-367_2945-364del
ENST00000695981.1:c.3134-367_3134-364del	ENSP00000512306.1:n.3134-367_3134-364del
ENST00000695984.1:c.1142-367_1142-364del	ENSP00000512309.1:n.1142-367_1142-364del
ENST00000695986.1:c.*2785-367_*2785-364del	ENSP00000512311.1:n.*2785-367_*2785-364del
ENST00000696026.1:c.*1416-367_*1416-364del	ENSP00000512335.1:n.*1416-367_*1416-364del
ENST00000696027.1:c.3128-367_3128-364del	ENSP00000512336.1:n.3128-367_3128-364del
ENST00000696028.1:c.3062-367_3062-364del	ENSP00000512337.1:n.3062-367_3062-364del
ENST00000696029.1:c.3128-367_3128-364del	ENSP00000512338.1:n.3128-367_3128-364del
ENST00000696031.1:c.*2652-367_*2652-364del	ENSP00000512340.1:n.*2652-367_*2652-364del
ENST00000696032.1:c.3134-367_3134-364del	ENSP00000512341.1:n.3134-367_3134-364del
ENST00000696033.1:c.1160-36712_1160-36709del	ENSP00000512342.1:n.1160-36712_1160-36709del
ENST00000367429.9:c.3134-367_3134-364del MANE Select	ENSP00000356399.4:n.3134-367_3134-364del
ENST00000367429.8:c.3134-367_3134-364del	ENSP00000356399.4:n.3134-367_3134-364del
ENST00000466229.5:n.6232-367_6232-364del
NM_000186.3:c.3134-367_3134-364del , LRG_47t1:c.3134-367_3134-364del	NP_000177.2:n.3134-367_3134-364del
XR_001737134.2:n.3320-367_3320-364del
NM_000186.4:c.3134-367_3134-364del MANE Select	NP_000177.2:n.3134-367_3134-364del