Canonical Allele Identifier: CA729694520

Gene: CFH

Linked Data

• dbSNP Id: rs1414867427
• gnomAD v3: 1-196743385-CTGT-C
• gnomAD v4: 1-196743385-CTGT-C
• MyVariant Identifiers: chr1:g.196712516_196712518del (hg19) ; chr1:g.196743386_196743388del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743387_196743389del , CM000663.2:g.196743387_196743389del	GRCh38
NC_000001.10:g.196712517_196712519del , CM000663.1:g.196712517_196712519del	GRCh37
NC_000001.9:g.194979140_194979142del	NCBI36
NG_007259.1:g.96377_96379del , LRG_47:g.96377_96379del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4162-65_4162-63del
ENST00000695970.1:c.2960-65_2960-63del	ENSP00000512297.1:n.2960-65_2960-63del
ENST00000695971.1:c.3113-65_3113-63del	ENSP00000512298.1:n.3113-65_3113-63del
ENST00000695972.1:c.*211-65_*211-63del	ENSP00000512299.1:n.*211-65_*211-63del
ENST00000695973.1:c.*1498-65_*1498-63del	ENSP00000512300.1:n.*1498-65_*1498-63del
ENST00000695974.1:c.2957-65_2957-63del	ENSP00000512301.1:n.2957-65_2957-63del
ENST00000695975.1:c.*1261-65_*1261-63del	ENSP00000512302.1:n.*1261-65_*1261-63del
ENST00000695976.1:c.2945-65_2945-63del	ENSP00000512303.1:n.2945-65_2945-63del
ENST00000695981.1:c.3134-65_3134-63del	ENSP00000512306.1:n.3134-65_3134-63del
ENST00000695984.1:c.1142-65_1142-63del	ENSP00000512309.1:n.1142-65_1142-63del
ENST00000695986.1:c.*2785-65_*2785-63del	ENSP00000512311.1:n.*2785-65_*2785-63del
ENST00000696026.1:c.*1416-65_*1416-63del	ENSP00000512335.1:n.*1416-65_*1416-63del
ENST00000696027.1:c.3128-65_3128-63del	ENSP00000512336.1:n.3128-65_3128-63del
ENST00000696028.1:c.3062-65_3062-63del	ENSP00000512337.1:n.3062-65_3062-63del
ENST00000696029.1:c.3128-65_3128-63del	ENSP00000512338.1:n.3128-65_3128-63del
ENST00000696031.1:c.*2652-65_*2652-63del	ENSP00000512340.1:n.*2652-65_*2652-63del
ENST00000696032.1:c.3134-65_3134-63del	ENSP00000512341.1:n.3134-65_3134-63del
ENST00000696033.1:c.1160-36410_1160-36408del	ENSP00000512342.1:n.1160-36410_1160-36408del
ENST00000367429.9:c.3134-65_3134-63del MANE Select	ENSP00000356399.4:n.3134-65_3134-63del
ENST00000367429.8:c.3134-65_3134-63del	ENSP00000356399.4:n.3134-65_3134-63del
ENST00000466229.5:n.6232-65_6232-63del
NM_000186.3:c.3134-65_3134-63del , LRG_47t1:c.3134-65_3134-63del	NP_000177.2:n.3134-65_3134-63del
XR_001737134.2:n.3320-65_3320-63del
NM_000186.4:c.3134-65_3134-63del MANE Select	NP_000177.2:n.3134-65_3134-63del