Canonical Allele Identifier: CA343987238

Gene: CFH

Linked Data

• dbSNP Id: rs1558187490
• gnomAD v4: 1-196747146-T-C
• MyVariant Identifiers: chr1:g.196716276T>C (hg19) ; chr1:g.196747146T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747146T>C , CM000663.2:g.196747146T>C	GRCh38
NC_000001.10:g.196716276T>C , CM000663.1:g.196716276T>C	GRCh37
NC_000001.9:g.194982899T>C	NCBI36
NG_007259.1:g.100136T>C , LRG_47:g.100136T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4557T>C
ENST00000695970.1:c.3355T>C	ENSP00000512297.1:p.Tyr1119His
ENST00000695971.1:c.3508T>C	ENSP00000512298.1:p.Tyr1170His
ENST00000695972.1:c.*606T>C	ENSP00000512299.1:n.*606T>C
ENST00000695973.1:c.*1893T>C	ENSP00000512300.1:n.*1893T>C
ENST00000695974.1:c.3352T>C	ENSP00000512301.1:p.Tyr1118His
ENST00000695975.1:c.*1656T>C	ENSP00000512302.1:n.*1656T>C
ENST00000695976.1:c.3340T>C	ENSP00000512303.1:p.Tyr1114His
ENST00000695981.1:c.3529T>C	ENSP00000512306.1:p.Tyr1177His
ENST00000695984.1:c.1537T>C	ENSP00000512309.1:p.Tyr513His
ENST00000695986.1:c.*3180T>C	ENSP00000512311.1:n.*3180T>C
ENST00000695990.1:n.563T>C
ENST00000696026.1:c.*1811T>C	ENSP00000512335.1:n.*1811T>C
ENST00000696027.1:c.3523T>C	ENSP00000512336.1:p.Tyr1175His
ENST00000696028.1:c.3457T>C	ENSP00000512337.1:p.Tyr1153His
ENST00000696029.1:c.3523T>C	ENSP00000512338.1:p.Tyr1175His
ENST00000696031.1:c.*3047T>C	ENSP00000512340.1:n.*3047T>C
ENST00000696032.1:c.3529T>C	ENSP00000512341.1:p.Tyr1177His
ENST00000696033.1:c.1160-32651T>C	ENSP00000512342.1:n.1160-32651T>C
ENST00000367429.9:c.3529T>C MANE Select	ENSP00000356399.4:p.Tyr1177His
ENST00000367429.8:c.3529T>C	ENSP00000356399.4:p.Tyr1177His
ENST00000466229.5:n.6627T>C
NM_000186.3:c.3529T>C , LRG_47t1:c.3529T>C	NP_000177.2:p.Tyr1177His
XR_001737134.2:n.3715T>C
NM_000186.4:c.3529T>C MANE Select	NP_000177.2:p.Tyr1177His