Canonical Allele Identifier: CA2649644391

Gene: CFH

Linked Data

• gnomAD v4: 1-196713589-CCTTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196713593_196713597del , CM000663.2:g.196713593_196713597del	GRCh38
NC_000001.10:g.196682723_196682727del , CM000663.1:g.196682723_196682727del	GRCh37
NC_000001.9:g.194949346_194949350del	NCBI36
NG_007259.1:g.66583_66587del , LRG_47:g.66583_66587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1603-142_1603-138del
ENST00000695969.1:c.1337-142_1337-138del	ENSP00000512296.1:n.1337-142_1337-138del
ENST00000695970.1:c.1337-142_1337-138del	ENSP00000512297.1:n.1337-142_1337-138del
ENST00000695971.1:c.1316-142_1316-138del	ENSP00000512298.1:n.1316-142_1316-138del
ENST00000695972.1:c.1337-142_1337-138del	ENSP00000512299.1:n.1337-142_1337-138del
ENST00000695973.1:c.1337-142_1337-138del	ENSP00000512300.1:n.1337-142_1337-138del
ENST00000695974.1:c.1337-142_1337-138del	ENSP00000512301.1:n.1337-142_1337-138del
ENST00000695975.1:c.1337-142_1337-138del	ENSP00000512302.1:n.1337-142_1337-138del
ENST00000695976.1:c.1148-142_1148-138del	ENSP00000512303.1:n.1148-142_1148-138del
ENST00000695981.1:c.1337-142_1337-138del	ENSP00000512306.1:n.1337-142_1337-138del
ENST00000695983.1:c.1337-142_1337-138del	ENSP00000512308.1:n.1337-142_1337-138del
ENST00000695984.1:c.245-14753_245-14749del	ENSP00000512309.1:n.245-14753_245-14749del
ENST00000695986.1:c.*988-142_*988-138del	ENSP00000512311.1:n.*988-142_*988-138del
ENST00000696024.1:n.1421-142_1421-138del
ENST00000696025.1:n.1421-142_1421-138del
ENST00000696026.1:c.1337-142_1337-138del	ENSP00000512335.1:n.1337-142_1337-138del
ENST00000696027.1:c.1337-142_1337-138del	ENSP00000512336.1:n.1337-142_1337-138del
ENST00000696028.1:c.1337-142_1337-138del	ENSP00000512337.1:n.1337-142_1337-138del
ENST00000696029.1:c.1337-142_1337-138del	ENSP00000512338.1:n.1337-142_1337-138del
ENST00000696031.1:c.*855-142_*855-138del	ENSP00000512340.1:n.*855-142_*855-138del
ENST00000696032.1:c.1337-142_1337-138del	ENSP00000512341.1:n.1337-142_1337-138del
ENST00000696033.1:c.1159+23979_1159+23983del	ENSP00000512342.1:n.1159+23979_1159+23983del
ENST00000367429.9:c.1337-142_1337-138del MANE Select	ENSP00000356399.4:n.1337-142_1337-138del
ENST00000367429.8:c.1337-142_1337-138del	ENSP00000356399.4:n.1337-142_1337-138del
ENST00000466229.5:n.3353-142_3353-138del
NM_000186.3:c.1337-142_1337-138del , LRG_47t1:c.1337-142_1337-138del	NP_000177.2:n.1337-142_1337-138del
XR_001737134.2:n.1422-142_1422-138del
NM_000186.4:c.1337-142_1337-138del MANE Select	NP_000177.2:n.1337-142_1337-138del