Canonical Allele Identifier: CA1305330

Gene: CFH

Linked Data

• dbSNP Id: rs749747999
• ExAC: 1:196659531 TATACAAATTTCTTGATAAGTACATAGTAAA / T
• gnomAD v2: 1-196659531-TATACAAATTTCTTGATAAGTACATAGTAAA-T
• gnomAD v3: 1-196690401-TATACAAATTTCTTGATAAGTACATAGTAAA-T
• gnomAD v4: 1-196690401-TATACAAATTTCTTGATAAGTACATAGTAAA-T
• MyVariant Identifiers: chr1:g.196659532_196659561del (hg19) ; chr1:g.196690402_196690431del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196690405_196690434del , CM000663.2:g.196690405_196690434del	GRCh38
NC_000001.10:g.196659535_196659564del , CM000663.1:g.196659535_196659564del	GRCh37
NC_000001.9:g.194926158_194926187del	NCBI36
NG_007259.1:g.43395_43424del , LRG_47:g.43395_43424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.1144+166_1144+195del	ENSP00000352658.2:n.1144+166_1144+195del
ENST00000470918.2:n.1602+166_1602+195del
ENST00000695968.1:c.1153+166_1153+195del	ENSP00000512295.1:n.1153+166_1153+195del
ENST00000695969.1:c.1336+166_1336+195del	ENSP00000512296.1:n.1336+166_1336+195del
ENST00000695970.1:c.1336+166_1336+195del	ENSP00000512297.1:n.1336+166_1336+195del
ENST00000695971.1:c.1315+166_1315+195del	ENSP00000512298.1:n.1315+166_1315+195del
ENST00000695972.1:c.1336+166_1336+195del	ENSP00000512299.1:n.1336+166_1336+195del
ENST00000695973.1:c.1336+166_1336+195del	ENSP00000512300.1:n.1336+166_1336+195del
ENST00000695974.1:c.1336+166_1336+195del	ENSP00000512301.1:n.1336+166_1336+195del
ENST00000695975.1:c.1336+166_1336+195del	ENSP00000512302.1:n.1336+166_1336+195del
ENST00000695976.1:c.1147+166_1147+195del	ENSP00000512303.1:n.1147+166_1147+195del
ENST00000695977.1:n.177+166_177+195del
ENST00000695978.1:c.1340+162_1340+191del	ENSP00000512304.1:n.1340+162_1340+191del
ENST00000695979.1:c.1315+166_1315+195del	ENSP00000512305.1:n.1315+166_1315+195del
ENST00000695980.1:n.1456+166_1456+195del
ENST00000695981.1:c.1336+166_1336+195del	ENSP00000512306.1:n.1336+166_1336+195del
ENST00000695983.1:c.1336+166_1336+195del	ENSP00000512308.1:n.1336+166_1336+195del
ENST00000695984.1:c.244+17242_244+17271del	ENSP00000512309.1:n.244+17242_244+17271del
ENST00000695986.1:c.*987+166_*987+195del	ENSP00000512311.1:n.*987+166_*987+195del
ENST00000695987.1:c.1147+166_1147+195del	ENSP00000512312.1:n.1147+166_1147+195del
ENST00000696018.1:n.1420+166_1420+195del
ENST00000696019.1:n.1420+166_1420+195del
ENST00000696020.1:n.1420+166_1420+195del
ENST00000696021.1:n.1399+166_1399+195del
ENST00000696022.1:n.1424+162_1424+191del
ENST00000696023.1:c.*19+121_*19+150del	ENSP00000512334.1:n.*19+121_*19+150del
ENST00000696024.1:n.1420+166_1420+195del
ENST00000696025.1:n.1420+166_1420+195del
ENST00000696026.1:c.1336+166_1336+195del	ENSP00000512335.1:n.1336+166_1336+195del
ENST00000696027.1:c.1336+166_1336+195del	ENSP00000512336.1:n.1336+166_1336+195del
ENST00000696028.1:c.1336+166_1336+195del	ENSP00000512337.1:n.1336+166_1336+195del
ENST00000696029.1:c.1336+166_1336+195del	ENSP00000512338.1:n.1336+166_1336+195del
ENST00000696030.1:c.1261+166_1261+195del	ENSP00000512339.1:n.1261+166_1261+195del
ENST00000696031.1:c.*854+166_*854+195del	ENSP00000512340.1:n.*854+166_*854+195del
ENST00000696032.1:c.1336+166_1336+195del	ENSP00000512341.1:n.1336+166_1336+195del
ENST00000696033.1:c.1159+791_1159+820del	ENSP00000512342.1:n.1159+791_1159+820del
ENST00000367429.9:c.1336+166_1336+195del MANE Select	ENSP00000356399.4:n.1336+166_1336+195del
ENST00000359637.2:c.1144+166_1144+195del	ENSP00000352658.2:n.1144+166_1144+195del
ENST00000367429.8:c.1336+166_1336+195del	ENSP00000356399.4:n.1336+166_1336+195del
ENST00000466229.5:n.3352+166_3352+195del
ENST00000630130.2:c.1336+166_1336+195del	ENSP00000487250.1:n.1336+166_1336+195del
NM_000186.3:c.1336+166_1336+195del , LRG_47t1:c.1336+166_1336+195del	NP_000177.2:n.1336+166_1336+195del
NM_001014975.2:c.1336+166_1336+195del	NP_001014975.1:n.1336+166_1336+195del
XM_017001108.2:c.1336+166_1336+195del	XP_016856597.1:n.1336+166_1336+195del
XR_001737134.2:n.1421+166_1421+195del
NM_000186.4:c.1336+166_1336+195del MANE Select	NP_000177.2:n.1336+166_1336+195del
NM_001014975.3:c.1336+166_1336+195del	NP_001014975.1:n.1336+166_1336+195del