Canonical Allele Identifier: CA729694378

Gene: CFH

Linked Data

• dbSNP Id: rs1421718798
• gnomAD v3: 1-196743074-CTATT-C
• gnomAD v4: 1-196743074-CTATT-C
• MyVariant Identifiers: chr1:g.196712205_196712208del (hg19) ; chr1:g.196743075_196743078del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743078_196743081del , CM000663.2:g.196743078_196743081del	GRCh38
NC_000001.10:g.196712208_196712211del , CM000663.1:g.196712208_196712211del	GRCh37
NC_000001.9:g.194978831_194978834del	NCBI36
NG_007259.1:g.96068_96071del , LRG_47:g.96068_96071del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4162-374_4162-371del
ENST00000695970.1:c.2960-374_2960-371del	ENSP00000512297.1:n.2960-374_2960-371del
ENST00000695971.1:c.3113-374_3113-371del	ENSP00000512298.1:n.3113-374_3113-371del
ENST00000695972.1:c.*211-374_*211-371del	ENSP00000512299.1:n.*211-374_*211-371del
ENST00000695973.1:c.*1498-374_*1498-371del	ENSP00000512300.1:n.*1498-374_*1498-371del
ENST00000695974.1:c.2957-374_2957-371del	ENSP00000512301.1:n.2957-374_2957-371del
ENST00000695975.1:c.*1261-374_*1261-371del	ENSP00000512302.1:n.*1261-374_*1261-371del
ENST00000695976.1:c.2945-374_2945-371del	ENSP00000512303.1:n.2945-374_2945-371del
ENST00000695981.1:c.3134-374_3134-371del	ENSP00000512306.1:n.3134-374_3134-371del
ENST00000695984.1:c.1142-374_1142-371del	ENSP00000512309.1:n.1142-374_1142-371del
ENST00000695986.1:c.*2785-374_*2785-371del	ENSP00000512311.1:n.*2785-374_*2785-371del
ENST00000696026.1:c.*1416-374_*1416-371del	ENSP00000512335.1:n.*1416-374_*1416-371del
ENST00000696027.1:c.3128-374_3128-371del	ENSP00000512336.1:n.3128-374_3128-371del
ENST00000696028.1:c.3062-374_3062-371del	ENSP00000512337.1:n.3062-374_3062-371del
ENST00000696029.1:c.3128-374_3128-371del	ENSP00000512338.1:n.3128-374_3128-371del
ENST00000696031.1:c.*2652-374_*2652-371del	ENSP00000512340.1:n.*2652-374_*2652-371del
ENST00000696032.1:c.3134-374_3134-371del	ENSP00000512341.1:n.3134-374_3134-371del
ENST00000696033.1:c.1160-36719_1160-36716del	ENSP00000512342.1:n.1160-36719_1160-36716del
ENST00000367429.9:c.3134-374_3134-371del MANE Select	ENSP00000356399.4:n.3134-374_3134-371del
ENST00000367429.8:c.3134-374_3134-371del	ENSP00000356399.4:n.3134-374_3134-371del
ENST00000466229.5:n.6232-374_6232-371del
NM_000186.3:c.3134-374_3134-371del , LRG_47t1:c.3134-374_3134-371del	NP_000177.2:n.3134-374_3134-371del
XR_001737134.2:n.3320-374_3320-371del
NM_000186.4:c.3134-374_3134-371del MANE Select	NP_000177.2:n.3134-374_3134-371del