Canonical Allele Identifier: CA2649645148

Gene: CFH

Linked Data

• gnomAD v4: 1-196715825-AATTTTAAAAATTTGAATTATATAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196715827_196715850del , CM000663.2:g.196715827_196715850del	GRCh38
NC_000001.10:g.196684957_196684980del , CM000663.1:g.196684957_196684980del	GRCh37
NC_000001.9:g.194951580_194951603del	NCBI36
NG_007259.1:g.68817_68840del , LRG_47:g.68817_68840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1962+58_1962+81del
ENST00000695969.1:c.1696+58_1696+81del	ENSP00000512296.1:n.1696+58_1696+81del
ENST00000695970.1:c.1696+58_1696+81del	ENSP00000512297.1:n.1696+58_1696+81del
ENST00000695971.1:c.1675+58_1675+81del	ENSP00000512298.1:n.1675+58_1675+81del
ENST00000695972.1:c.1696+58_1696+81del	ENSP00000512299.1:n.1696+58_1696+81del
ENST00000695973.1:c.1696+58_1696+81del	ENSP00000512300.1:n.1696+58_1696+81del
ENST00000695974.1:c.1696+58_1696+81del	ENSP00000512301.1:n.1696+58_1696+81del
ENST00000695975.1:c.1696+58_1696+81del	ENSP00000512302.1:n.1696+58_1696+81del
ENST00000695976.1:c.1507+58_1507+81del	ENSP00000512303.1:n.1507+58_1507+81del
ENST00000695981.1:c.1696+58_1696+81del	ENSP00000512306.1:n.1696+58_1696+81del
ENST00000695983.1:c.1696+58_1696+81del	ENSP00000512308.1:n.1696+58_1696+81del
ENST00000695984.1:c.245-12519_245-12496del	ENSP00000512309.1:n.245-12519_245-12496del
ENST00000695986.1:c.*1347+58_*1347+81del	ENSP00000512311.1:n.*1347+58_*1347+81del
ENST00000696024.1:n.1780+58_1780+81del
ENST00000696025.1:n.1780+58_1780+81del
ENST00000696026.1:c.1700+54_1700+77del	ENSP00000512335.1:n.1700+54_1700+77del
ENST00000696027.1:c.1696+58_1696+81del	ENSP00000512336.1:n.1696+58_1696+81del
ENST00000696028.1:c.1696+58_1696+81del	ENSP00000512337.1:n.1696+58_1696+81del
ENST00000696029.1:c.1696+58_1696+81del	ENSP00000512338.1:n.1696+58_1696+81del
ENST00000696031.1:c.*1214+58_*1214+81del	ENSP00000512340.1:n.*1214+58_*1214+81del
ENST00000696032.1:c.1696+58_1696+81del	ENSP00000512341.1:n.1696+58_1696+81del
ENST00000696033.1:c.1159+26213_1159+26236del	ENSP00000512342.1:n.1159+26213_1159+26236del
ENST00000367429.9:c.1696+58_1696+81del MANE Select	ENSP00000356399.4:n.1696+58_1696+81del
ENST00000367429.8:c.1696+58_1696+81del	ENSP00000356399.4:n.1696+58_1696+81del
ENST00000466229.5:n.3712+58_3712+81del
NM_000186.3:c.1696+58_1696+81del , LRG_47t1:c.1696+58_1696+81del	NP_000177.2:n.1696+58_1696+81del
XR_001737134.2:n.1781+58_1781+81del
NM_000186.4:c.1696+58_1696+81del MANE Select	NP_000177.2:n.1696+58_1696+81del