Canonical Allele Identifier: CA1010870384

Gene: CFH

Linked Data

• dbSNP Id: rs1652874527
• gnomAD v3: 1-196743280-GTTTCA-G
• gnomAD v4: 1-196743280-GTTTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743282_196743286del , CM000663.2:g.196743282_196743286del	GRCh38
NC_000001.10:g.196712412_196712416del , CM000663.1:g.196712412_196712416del	GRCh37
NC_000001.9:g.194979035_194979039del	NCBI36
NG_007259.1:g.96272_96276del , LRG_47:g.96272_96276del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4162-170_4162-166del
ENST00000695970.1:c.2960-170_2960-166del	ENSP00000512297.1:n.2960-170_2960-166del
ENST00000695971.1:c.3113-170_3113-166del	ENSP00000512298.1:n.3113-170_3113-166del
ENST00000695972.1:c.*211-170_*211-166del	ENSP00000512299.1:n.*211-170_*211-166del
ENST00000695973.1:c.*1498-170_*1498-166del	ENSP00000512300.1:n.*1498-170_*1498-166del
ENST00000695974.1:c.2957-170_2957-166del	ENSP00000512301.1:n.2957-170_2957-166del
ENST00000695975.1:c.*1261-170_*1261-166del	ENSP00000512302.1:n.*1261-170_*1261-166del
ENST00000695976.1:c.2945-170_2945-166del	ENSP00000512303.1:n.2945-170_2945-166del
ENST00000695981.1:c.3134-170_3134-166del	ENSP00000512306.1:n.3134-170_3134-166del
ENST00000695984.1:c.1142-170_1142-166del	ENSP00000512309.1:n.1142-170_1142-166del
ENST00000695986.1:c.*2785-170_*2785-166del	ENSP00000512311.1:n.*2785-170_*2785-166del
ENST00000696026.1:c.*1416-170_*1416-166del	ENSP00000512335.1:n.*1416-170_*1416-166del
ENST00000696027.1:c.3128-170_3128-166del	ENSP00000512336.1:n.3128-170_3128-166del
ENST00000696028.1:c.3062-170_3062-166del	ENSP00000512337.1:n.3062-170_3062-166del
ENST00000696029.1:c.3128-170_3128-166del	ENSP00000512338.1:n.3128-170_3128-166del
ENST00000696031.1:c.*2652-170_*2652-166del	ENSP00000512340.1:n.*2652-170_*2652-166del
ENST00000696032.1:c.3134-170_3134-166del	ENSP00000512341.1:n.3134-170_3134-166del
ENST00000696033.1:c.1160-36515_1160-36511del	ENSP00000512342.1:n.1160-36515_1160-36511del
ENST00000367429.9:c.3134-170_3134-166del MANE Select	ENSP00000356399.4:n.3134-170_3134-166del
ENST00000367429.8:c.3134-170_3134-166del	ENSP00000356399.4:n.3134-170_3134-166del
ENST00000466229.5:n.6232-170_6232-166del
NM_000186.3:c.3134-170_3134-166del , LRG_47t1:c.3134-170_3134-166del	NP_000177.2:n.3134-170_3134-166del
XR_001737134.2:n.3320-170_3320-166del
NM_000186.4:c.3134-170_3134-166del MANE Select	NP_000177.2:n.3134-170_3134-166del