Canonical Allele Identifier: CA528533889

Gene: CFH

Linked Data

• dbSNP Id: rs1425841871
• gnomAD v2: 1-196658960-ATATAATT-A
• gnomAD v3: 1-196689830-ATATAATT-A
• gnomAD v4: 1-196689830-ATATAATT-A
• MyVariant Identifiers: chr1:g.196658961_196658967del (hg19) ; chr1:g.196689831_196689837del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196689835_196689841del , CM000663.2:g.196689835_196689841del	GRCh38
NC_000001.10:g.196658965_196658971del , CM000663.1:g.196658965_196658971del	GRCh37
NC_000001.9:g.194925588_194925594del	NCBI36
NG_007259.1:g.42825_42831del , LRG_47:g.42825_42831del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.967+221_968-222del	ENSP00000352658.2:n.967+221_968-222del
ENST00000470918.2:n.1425+221_1426-222del
ENST00000695968.1:c.976+221_977-222del	ENSP00000512295.1:n.976+221_977-222del
ENST00000695969.1:c.1159+221_1160-222del	ENSP00000512296.1:n.1159+221_1160-222del
ENST00000695970.1:c.1159+221_1160-222del	ENSP00000512297.1:n.1159+221_1160-222del
ENST00000695971.1:c.1138+221_1139-222del	ENSP00000512298.1:n.1138+221_1139-222del
ENST00000695972.1:c.1159+221_1160-222del	ENSP00000512299.1:n.1159+221_1160-222del
ENST00000695973.1:c.1159+221_1160-222del	ENSP00000512300.1:n.1159+221_1160-222del
ENST00000695974.1:c.1159+221_1160-222del	ENSP00000512301.1:n.1159+221_1160-222del
ENST00000695975.1:c.1159+221_1160-222del	ENSP00000512302.1:n.1159+221_1160-222del
ENST00000695976.1:c.970+221_971-222del	ENSP00000512303.1:n.970+221_971-222del
ENST00000695978.1:c.1159+221_1160-222del	ENSP00000512304.1:n.1159+221_1160-222del
ENST00000695979.1:c.1138+221_1139-222del	ENSP00000512305.1:n.1138+221_1139-222del
ENST00000695980.1:n.1279+221_1280-222del
ENST00000695981.1:c.1159+221_1160-222del	ENSP00000512306.1:n.1159+221_1160-222del
ENST00000695983.1:c.1159+221_1160-222del	ENSP00000512308.1:n.1159+221_1160-222del
ENST00000695984.1:c.244+16672_244+16678del	ENSP00000512309.1:n.244+16672_244+16678del
ENST00000695986.1:c.*810+221_*811-222del	ENSP00000512311.1:n.*810+221_*811-222del
ENST00000695987.1:c.970+221_971-222del	ENSP00000512312.1:n.970+221_971-222del
ENST00000696018.1:n.1243+221_1244-222del
ENST00000696019.1:n.1243+221_1244-222del
ENST00000696020.1:n.1243+221_1244-222del
ENST00000696021.1:n.1222+221_1223-222del
ENST00000696022.1:n.1243+221_1244-222del
ENST00000696023.1:c.1159+221_1160-222del	ENSP00000512334.1:n.1159+221_1160-222del
ENST00000696024.1:n.1243+221_1244-222del
ENST00000696025.1:n.1243+221_1244-222del
ENST00000696026.1:c.1159+221_1160-222del	ENSP00000512335.1:n.1159+221_1160-222del
ENST00000696027.1:c.1159+221_1160-222del	ENSP00000512336.1:n.1159+221_1160-222del
ENST00000696028.1:c.1159+221_1160-222del	ENSP00000512337.1:n.1159+221_1160-222del
ENST00000696029.1:c.1159+221_1160-222del	ENSP00000512338.1:n.1159+221_1160-222del
ENST00000696030.1:c.1084+221_1085-222del	ENSP00000512339.1:n.1084+221_1085-222del
ENST00000696031.1:c.*677+221_*678-222del	ENSP00000512340.1:n.*677+221_*678-222del
ENST00000696032.1:c.1159+221_1160-222del	ENSP00000512341.1:n.1159+221_1160-222del
ENST00000696033.1:c.1159+221_1159+227del	ENSP00000512342.1:n.1159+221_1159+227del
ENST00000367429.9:c.1159+221_1160-222del MANE Select	ENSP00000356399.4:n.1159+221_1160-222del
ENST00000359637.2:c.967+221_968-222del	ENSP00000352658.2:n.967+221_968-222del
ENST00000367429.8:c.1159+221_1160-222del	ENSP00000356399.4:n.1159+221_1160-222del
ENST00000466229.5:n.3175+221_3176-222del
ENST00000630130.2:c.1159+221_1160-222del	ENSP00000487250.1:n.1159+221_1160-222del
NM_000186.3:c.1159+221_1160-222del , LRG_47t1:c.1159+221_1160-222del	NP_000177.2:n.1159+221_1160-222del
NM_001014975.2:c.1159+221_1160-222del	NP_001014975.1:n.1159+221_1160-222del
XM_017001108.2:c.1159+221_1160-222del	XP_016856597.1:n.1159+221_1160-222del
XR_001737134.2:n.1244+221_1245-222del
NM_000186.4:c.1159+221_1160-222del MANE Select	NP_000177.2:n.1159+221_1160-222del
NM_001014975.3:c.1159+221_1160-222del	NP_001014975.1:n.1159+221_1160-222del