Canonical Allele Identifier: CA343980784

Gene: CFH

Linked Data

• dbSNP Id: rs1372323053
• gnomAD v4: 1-196690195-G-A
• MyVariant Identifiers: chr1:g.196659325G>A (hg19) ; chr1:g.196690195G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196690195G>A , CM000663.2:g.196690195G>A	GRCh38
NC_000001.10:g.196659325G>A , CM000663.1:g.196659325G>A	GRCh37
NC_000001.9:g.194925948G>A	NCBI36
NG_007259.1:g.43185G>A , LRG_47:g.43185G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.1100G>A	ENSP00000352658.2:p.Cys367Tyr
ENST00000470918.2:n.1558G>A
ENST00000695968.1:c.1109G>A	ENSP00000512295.1:p.Cys370Tyr
ENST00000695969.1:c.1292G>A	ENSP00000512296.1:p.Cys431Tyr
ENST00000695970.1:c.1292G>A	ENSP00000512297.1:p.Cys431Tyr
ENST00000695971.1:c.1271G>A	ENSP00000512298.1:p.Cys424Tyr
ENST00000695972.1:c.1292G>A	ENSP00000512299.1:p.Cys431Tyr
ENST00000695973.1:c.1292G>A	ENSP00000512300.1:p.Cys431Tyr
ENST00000695974.1:c.1292G>A	ENSP00000512301.1:p.Cys431Tyr
ENST00000695975.1:c.1292G>A	ENSP00000512302.1:p.Cys431Tyr
ENST00000695976.1:c.1103G>A	ENSP00000512303.1:p.Cys368Tyr
ENST00000695977.1:n.133G>A
ENST00000695978.1:c.1292G>A	ENSP00000512304.1:p.Cys431Tyr
ENST00000695979.1:c.1271G>A	ENSP00000512305.1:p.Cys424Tyr
ENST00000695980.1:n.1412G>A
ENST00000695981.1:c.1292G>A	ENSP00000512306.1:p.Cys431Tyr
ENST00000695983.1:c.1292G>A	ENSP00000512308.1:p.Cys431Tyr
ENST00000695984.1:c.244+17032G>A	ENSP00000512309.1:n.244+17032G>A
ENST00000695986.1:c.*943G>A	ENSP00000512311.1:n.*943G>A
ENST00000695987.1:c.1103G>A	ENSP00000512312.1:p.Cys368Tyr
ENST00000696018.1:n.1376G>A
ENST00000696019.1:n.1376G>A
ENST00000696020.1:n.1376G>A
ENST00000696021.1:n.1355G>A
ENST00000696022.1:n.1376G>A
ENST00000696023.1:c.1292G>A	ENSP00000512334.1:p.Cys431Tyr
ENST00000696024.1:n.1376G>A
ENST00000696025.1:n.1376G>A
ENST00000696026.1:c.1292G>A	ENSP00000512335.1:p.Cys431Tyr
ENST00000696027.1:c.1292G>A	ENSP00000512336.1:p.Cys431Tyr
ENST00000696028.1:c.1292G>A	ENSP00000512337.1:p.Cys431Tyr
ENST00000696029.1:c.1292G>A	ENSP00000512338.1:p.Cys431Tyr
ENST00000696030.1:c.1217G>A	ENSP00000512339.1:p.Cys406Tyr
ENST00000696031.1:c.*810G>A	ENSP00000512340.1:n.*810G>A
ENST00000696032.1:c.1292G>A	ENSP00000512341.1:p.Cys431Tyr
ENST00000696033.1:c.1159+581G>A	ENSP00000512342.1:n.1159+581G>A
ENST00000367429.9:c.1292G>A MANE Select	ENSP00000356399.4:p.Cys431Tyr
ENST00000359637.2:c.1100G>A	ENSP00000352658.2:p.Cys367Tyr
ENST00000367429.8:c.1292G>A	ENSP00000356399.4:p.Cys431Tyr
ENST00000466229.5:n.3308G>A
ENST00000630130.2:c.1292G>A	ENSP00000487250.1:p.Cys431Tyr
NM_000186.3:c.1292G>A , LRG_47t1:c.1292G>A	NP_000177.2:p.Cys431Tyr
NM_001014975.2:c.1292G>A	NP_001014975.1:p.Cys431Tyr
XM_017001108.2:c.1292G>A	XP_016856597.1:p.Cys431Tyr
XR_001737134.2:n.1377G>A
NM_000186.4:c.1292G>A MANE Select	NP_000177.2:p.Cys431Tyr
NM_001014975.3:c.1292G>A	NP_001014975.1:p.Cys431Tyr