Canonical Allele Identifier: CA257499
Gene: CFH HGNC NCBI

Linked Data

ClinVar Variation Id: 16546
ClinVar RCV Id: RCV000018012
dbSNP Id: rs796052136

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747294_196747317del , CM000663.2:g.196747294_196747317del GRCh38
NC_000001.10:g.196716424_196716447del , CM000663.1:g.196716424_196716447del GRCh37
NC_000001.9:g.194983047_194983070del NCBI36
NG_007259.1:g.100284_100307del , LRG_47:g.100284_100307del

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4705_4728del
ENST00000695970.1:c.3503_*4del ENSP00000512297.1:n.[c.3503_*4del;Pro1168...
ENST00000695971.1:c.3656_*4del ENSP00000512298.1:n.[c.3656_*4del;Pro1219...
ENST00000695972.1:c.*754_*777del ENSP00000512299.1:n.*754_*777del
ENST00000695973.1:c.*2041_*2064del ENSP00000512300.1:n.*2041_*2064del
ENST00000695974.1:c.3500_*4del ENSP00000512301.1:n.[c.3500_*4del;Pro1167...
ENST00000695975.1:c.*1804_*1827del ENSP00000512302.1:n.*1804_*1827del
ENST00000695976.1:c.3488_*4del ENSP00000512303.1:n.[c.3488_*4del;Pro1163...
ENST00000695981.1:c.3580+97_3580+120del ENSP00000512306.1:n.3580+97_3580+120del
ENST00000695984.1:c.1685_*4del ENSP00000512309.1:n.[c.1685_*4del;Pro562G...
ENST00000695986.1:c.*3328_*3351del ENSP00000512311.1:n.*3328_*3351del
ENST00000695990.1:n.711_734del
ENST00000696026.1:c.*1959_*1982del ENSP00000512335.1:n.*1959_*1982del
ENST00000696027.1:c.3671_*4del ENSP00000512336.1:n.[c.3671_*4del;Pro1224...
ENST00000696028.1:c.3605_*4del ENSP00000512337.1:n.[c.3605_*4del;Pro1202...
ENST00000696029.1:c.3671_*4del ENSP00000512338.1:n.[c.3671_*4del;Pro1224...
ENST00000696031.1:c.*3195_*3218del ENSP00000512340.1:n.*3195_*3218del
ENST00000696032.1:c.3580+97_3580+120del ENSP00000512341.1:n.3580+97_3580+120del
ENST00000696033.1:c.1160-32503_1160-32480del ENSP00000512342.1:n.1160-32503_1160-32480...
ENST00000367429.9:c.3677_*4del MANE Select ENSP00000356399.4:n.[c.3677_*4del;Pro1226...
ENST00000367429.8:c.3677_*4del ENSP00000356399.4:n.[c.3677_*4del;Pro1226...
ENST00000466229.5:n.6775_6798del
NM_000186.3:c.3677_*4del , LRG_47t1:c.3677_*4del NP_000177.2:n.[c.3677_*4del;Pro1226GlnfsT...
XR_001737134.2:n.3863_3886del
NM_000186.4:c.3677_*4del MANE Select NP_000177.2:n.[c.3677_*4del;Pro1226GlnfsT...