Canonical Allele Identifier: CA35813543

Gene: CFH

Linked Data

• dbSNP Id: rs199794751
• gnomAD v2: 1-196712269-T-TC
• gnomAD v3: 1-196743139-T-TC
• gnomAD v4: 1-196743139-T-TC
• MyVariant Identifiers: chr1:g.196712269_196712270insC (hg19) ; chr1:g.196743139_196743140insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743139_196743140insC , CM000663.2:g.196743139_196743140insC	GRCh38
NC_000001.10:g.196712269_196712270insC , CM000663.1:g.196712269_196712270insC	GRCh37
NC_000001.9:g.194978892_194978893insC	NCBI36
NG_007259.1:g.96129_96130insC , LRG_47:g.96129_96130insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4162-313_4162-312insC
ENST00000695970.1:c.2960-313_2960-312insC	ENSP00000512297.1:n.2960-313_2960-312insC
ENST00000695971.1:c.3113-313_3113-312insC	ENSP00000512298.1:n.3113-313_3113-312insC
ENST00000695972.1:c.*211-313_*211-312insC	ENSP00000512299.1:n.*211-313_*211-312insC
ENST00000695973.1:c.*1498-313_*1498-312insC	ENSP00000512300.1:n.*1498-313_*1498-312insC
ENST00000695974.1:c.2957-313_2957-312insC	ENSP00000512301.1:n.2957-313_2957-312insC
ENST00000695975.1:c.*1261-313_*1261-312insC	ENSP00000512302.1:n.*1261-313_*1261-312insC
ENST00000695976.1:c.2945-313_2945-312insC	ENSP00000512303.1:n.2945-313_2945-312insC
ENST00000695981.1:c.3134-313_3134-312insC	ENSP00000512306.1:n.3134-313_3134-312insC
ENST00000695984.1:c.1142-313_1142-312insC	ENSP00000512309.1:n.1142-313_1142-312insC
ENST00000695986.1:c.*2785-313_*2785-312insC	ENSP00000512311.1:n.*2785-313_*2785-312insC
ENST00000696026.1:c.*1416-313_*1416-312insC	ENSP00000512335.1:n.*1416-313_*1416-312insC
ENST00000696027.1:c.3128-313_3128-312insC	ENSP00000512336.1:n.3128-313_3128-312insC
ENST00000696028.1:c.3062-313_3062-312insC	ENSP00000512337.1:n.3062-313_3062-312insC
ENST00000696029.1:c.3128-313_3128-312insC	ENSP00000512338.1:n.3128-313_3128-312insC
ENST00000696031.1:c.*2652-313_*2652-312insC	ENSP00000512340.1:n.*2652-313_*2652-312insC
ENST00000696032.1:c.3134-313_3134-312insC	ENSP00000512341.1:n.3134-313_3134-312insC
ENST00000696033.1:c.1160-36658_1160-36657insC	ENSP00000512342.1:n.1160-36658_1160-36657insC
ENST00000367429.9:c.3134-313_3134-312insC MANE Select	ENSP00000356399.4:n.3134-313_3134-312insC
ENST00000367429.8:c.3134-313_3134-312insC	ENSP00000356399.4:n.3134-313_3134-312insC
ENST00000466229.5:n.6232-313_6232-312insC
NM_000186.3:c.3134-313_3134-312insC , LRG_47t1:c.3134-313_3134-312insC	NP_000177.2:n.3134-313_3134-312insC
XR_001737134.2:n.3320-313_3320-312insC
NM_000186.4:c.3134-313_3134-312insC MANE Select	NP_000177.2:n.3134-313_3134-312insC