Canonical Allele Identifier: CA2649645037

Gene: CFH

Linked Data

• gnomAD v4: 1-196715471-TTGTACG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196715472_196715477del , CM000663.2:g.196715472_196715477del	GRCh38
NC_000001.10:g.196684602_196684607del , CM000663.1:g.196684602_196684607del	GRCh37
NC_000001.9:g.194951225_194951230del	NCBI36
NG_007259.1:g.68462_68467del , LRG_47:g.68462_68467del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1786-121_1786-116del
ENST00000695969.1:c.1520-121_1520-116del	ENSP00000512296.1:n.1520-121_1520-116del
ENST00000695970.1:c.1520-121_1520-116del	ENSP00000512297.1:n.1520-121_1520-116del
ENST00000695971.1:c.1499-121_1499-116del	ENSP00000512298.1:n.1499-121_1499-116del
ENST00000695972.1:c.1520-121_1520-116del	ENSP00000512299.1:n.1520-121_1520-116del
ENST00000695973.1:c.1520-121_1520-116del	ENSP00000512300.1:n.1520-121_1520-116del
ENST00000695974.1:c.1520-121_1520-116del	ENSP00000512301.1:n.1520-121_1520-116del
ENST00000695975.1:c.1520-121_1520-116del	ENSP00000512302.1:n.1520-121_1520-116del
ENST00000695976.1:c.1331-121_1331-116del	ENSP00000512303.1:n.1331-121_1331-116del
ENST00000695981.1:c.1520-121_1520-116del	ENSP00000512306.1:n.1520-121_1520-116del
ENST00000695983.1:c.1520-121_1520-116del	ENSP00000512308.1:n.1520-121_1520-116del
ENST00000695984.1:c.245-12874_245-12869del	ENSP00000512309.1:n.245-12874_245-12869del
ENST00000695986.1:c.*1171-121_*1171-116del	ENSP00000512311.1:n.*1171-121_*1171-116del
ENST00000696024.1:n.1604-121_1604-116del
ENST00000696025.1:n.1604-121_1604-116del
ENST00000696026.1:c.1520-121_1520-116del	ENSP00000512335.1:n.1520-121_1520-116del
ENST00000696027.1:c.1520-121_1520-116del	ENSP00000512336.1:n.1520-121_1520-116del
ENST00000696028.1:c.1520-121_1520-116del	ENSP00000512337.1:n.1520-121_1520-116del
ENST00000696029.1:c.1520-121_1520-116del	ENSP00000512338.1:n.1520-121_1520-116del
ENST00000696031.1:c.*1038-121_*1038-116del	ENSP00000512340.1:n.*1038-121_*1038-116del
ENST00000696032.1:c.1520-121_1520-116del	ENSP00000512341.1:n.1520-121_1520-116del
ENST00000696033.1:c.1159+25858_1159+25863del	ENSP00000512342.1:n.1159+25858_1159+25863del
ENST00000367429.9:c.1520-121_1520-116del MANE Select	ENSP00000356399.4:n.1520-121_1520-116del
ENST00000367429.8:c.1520-121_1520-116del	ENSP00000356399.4:n.1520-121_1520-116del
ENST00000466229.5:n.3536-121_3536-116del
NM_000186.3:c.1520-121_1520-116del , LRG_47t1:c.1520-121_1520-116del	NP_000177.2:n.1520-121_1520-116del
XR_001737134.2:n.1605-121_1605-116del
NM_000186.4:c.1520-121_1520-116del MANE Select	NP_000177.2:n.1520-121_1520-116del