Canonical Allele Identifier: CA422663570

Gene: CFH

Linked Data

• dbSNP Id: rs776558131
• gnomAD v4: 1-196747217-G-C
• MyVariant Identifiers: chr1:g.196716347G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747217G>C , CM000663.2:g.196747217G>C	GRCh38
NC_000001.10:g.196716347G>C , CM000663.1:g.196716347G>C	GRCh37
NC_000001.9:g.194982970G>C	NCBI36
NG_007259.1:g.100207G>C , LRG_47:g.100207G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4628G>C
ENST00000695970.1:c.3426G>C	ENSP00000512297.1:p.Val1142=
ENST00000695971.1:c.3579G>C	ENSP00000512298.1:p.Val1193=
ENST00000695972.1:c.*677G>C	ENSP00000512299.1:n.*677G>C
ENST00000695973.1:c.*1964G>C	ENSP00000512300.1:n.*1964G>C
ENST00000695974.1:c.3423G>C	ENSP00000512301.1:p.Val1141=
ENST00000695975.1:c.*1727G>C	ENSP00000512302.1:n.*1727G>C
ENST00000695976.1:c.3411G>C	ENSP00000512303.1:p.Val1137=
ENST00000695981.1:c.3580+20G>C	ENSP00000512306.1:n.3580+20G>C
ENST00000695984.1:c.1608G>C	ENSP00000512309.1:p.Val536=
ENST00000695986.1:c.*3251G>C	ENSP00000512311.1:n.*3251G>C
ENST00000695990.1:n.634G>C
ENST00000696026.1:c.*1882G>C	ENSP00000512335.1:n.*1882G>C
ENST00000696027.1:c.3594G>C	ENSP00000512336.1:p.Val1198=
ENST00000696028.1:c.3528G>C	ENSP00000512337.1:p.Val1176=
ENST00000696029.1:c.3594G>C	ENSP00000512338.1:p.Val1198=
ENST00000696031.1:c.*3118G>C	ENSP00000512340.1:n.*3118G>C
ENST00000696032.1:c.3580+20G>C	ENSP00000512341.1:n.3580+20G>C
ENST00000696033.1:c.1160-32580G>C	ENSP00000512342.1:n.1160-32580G>C
ENST00000367429.9:c.3600G>C MANE Select	ENSP00000356399.4:p.Val1200=
ENST00000367429.8:c.3600G>C	ENSP00000356399.4:p.Val1200=
ENST00000466229.5:n.6698G>C
NM_000186.3:c.3600G>C , LRG_47t1:c.3600G>C	NP_000177.2:p.Val1200=
XR_001737134.2:n.3786G>C
NM_000186.4:c.3600G>C MANE Select	NP_000177.2:p.Val1200=