Canonical Allele Identifier: CA422663851
Gene: CFH HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.196716416G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747286G>C , CM000663.2:g.196747286G>C GRCh38
NC_000001.10:g.196716416G>C , CM000663.1:g.196716416G>C GRCh37
NC_000001.9:g.194983039G>C NCBI36
NG_007259.1:g.100276G>C , LRG_47:g.100276G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4697G>C
ENST00000695970.1:c.3495G>C ENSP00000512297.1:p.Leu1165=
ENST00000695971.1:c.3648G>C ENSP00000512298.1:p.Leu1216=
ENST00000695972.1:c.*746G>C ENSP00000512299.1:n.*746G>C
ENST00000695973.1:c.*2033G>C ENSP00000512300.1:n.*2033G>C
ENST00000695974.1:c.3492G>C ENSP00000512301.1:p.Leu1164=
ENST00000695975.1:c.*1796G>C ENSP00000512302.1:n.*1796G>C
ENST00000695976.1:c.3480G>C ENSP00000512303.1:p.Leu1160=
ENST00000695981.1:c.3580+89G>C ENSP00000512306.1:n.3580+89G>C
ENST00000695984.1:c.1677G>C ENSP00000512309.1:p.Leu559=
ENST00000695986.1:c.*3320G>C ENSP00000512311.1:n.*3320G>C
ENST00000695990.1:n.703G>C
ENST00000696026.1:c.*1951G>C ENSP00000512335.1:n.*1951G>C
ENST00000696027.1:c.3663G>C ENSP00000512336.1:p.Leu1221=
ENST00000696028.1:c.3597G>C ENSP00000512337.1:p.Leu1199=
ENST00000696029.1:c.3663G>C ENSP00000512338.1:p.Leu1221=
ENST00000696031.1:c.*3187G>C ENSP00000512340.1:n.*3187G>C
ENST00000696032.1:c.3580+89G>C ENSP00000512341.1:n.3580+89G>C
ENST00000696033.1:c.1160-32511G>C ENSP00000512342.1:n.1160-32511G>C
ENST00000367429.9:c.3669G>C MANE Select ENSP00000356399.4:p.Leu1223=
ENST00000367429.8:c.3669G>C ENSP00000356399.4:p.Leu1223=
ENST00000466229.5:n.6767G>C
NM_000186.3:c.3669G>C , LRG_47t1:c.3669G>C NP_000177.2:p.Leu1223=
XR_001737134.2:n.3855G>C
NM_000186.4:c.3669G>C MANE Select NP_000177.2:p.Leu1223=