Canonical Allele Identifier: CA422663575

Gene: CFH

Linked Data

• dbSNP Id: rs1258265814
• gnomAD v2: 1-196716350-T-C
• gnomAD v4: 1-196747220-T-C
• MyVariant Identifiers: chr1:g.196716350T>C (hg19) ; chr1:g.196747220T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747220T>C , CM000663.2:g.196747220T>C	GRCh38
NC_000001.10:g.196716350T>C , CM000663.1:g.196716350T>C	GRCh37
NC_000001.9:g.194982973T>C	NCBI36
NG_007259.1:g.100210T>C , LRG_47:g.100210T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4631T>C
ENST00000695970.1:c.3429T>C	ENSP00000512297.1:p.Cys1143=
ENST00000695971.1:c.3582T>C	ENSP00000512298.1:p.Cys1194=
ENST00000695972.1:c.*680T>C	ENSP00000512299.1:n.*680T>C
ENST00000695973.1:c.*1967T>C	ENSP00000512300.1:n.*1967T>C
ENST00000695974.1:c.3426T>C	ENSP00000512301.1:p.Cys1142=
ENST00000695975.1:c.*1730T>C	ENSP00000512302.1:n.*1730T>C
ENST00000695976.1:c.3414T>C	ENSP00000512303.1:p.Cys1138=
ENST00000695981.1:c.3580+23T>C	ENSP00000512306.1:n.3580+23T>C
ENST00000695984.1:c.1611T>C	ENSP00000512309.1:p.Cys537=
ENST00000695986.1:c.*3254T>C	ENSP00000512311.1:n.*3254T>C
ENST00000695990.1:n.637T>C
ENST00000696026.1:c.*1885T>C	ENSP00000512335.1:n.*1885T>C
ENST00000696027.1:c.3597T>C	ENSP00000512336.1:p.Cys1199=
ENST00000696028.1:c.3531T>C	ENSP00000512337.1:p.Cys1177=
ENST00000696029.1:c.3597T>C	ENSP00000512338.1:p.Cys1199=
ENST00000696031.1:c.*3121T>C	ENSP00000512340.1:n.*3121T>C
ENST00000696032.1:c.3580+23T>C	ENSP00000512341.1:n.3580+23T>C
ENST00000696033.1:c.1160-32577T>C	ENSP00000512342.1:n.1160-32577T>C
ENST00000367429.9:c.3603T>C MANE Select	ENSP00000356399.4:p.Cys1201=
ENST00000367429.8:c.3603T>C	ENSP00000356399.4:p.Cys1201=
ENST00000466229.5:n.6701T>C
NM_000186.3:c.3603T>C , LRG_47t1:c.3603T>C	NP_000177.2:p.Cys1201=
XR_001737134.2:n.3789T>C
NM_000186.4:c.3603T>C MANE Select	NP_000177.2:p.Cys1201=