Canonical Allele Identifier: CA422662988

Gene: CFH

Linked Data

• dbSNP Id: rs1196539263
• gnomAD v2: 1-196712757-A-G
• gnomAD v4: 1-196743627-A-G
• MyVariant Identifiers: chr1:g.196712757A>G (hg19) ; chr1:g.196743627A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743627A>G , CM000663.2:g.196743627A>G	GRCh38
NC_000001.10:g.196712757A>G , CM000663.1:g.196712757A>G	GRCh37
NC_000001.9:g.194979380A>G	NCBI36
NG_007259.1:g.96617A>G , LRG_47:g.96617A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4337A>G
ENST00000695970.1:c.3135A>G	ENSP00000512297.1:p.Lys1045=
ENST00000695971.1:c.3288A>G	ENSP00000512298.1:p.Lys1096=
ENST00000695972.1:c.*386A>G	ENSP00000512299.1:n.*386A>G
ENST00000695973.1:c.*1673A>G	ENSP00000512300.1:n.*1673A>G
ENST00000695974.1:c.3132A>G	ENSP00000512301.1:p.Lys1044=
ENST00000695975.1:c.*1436A>G	ENSP00000512302.1:n.*1436A>G
ENST00000695976.1:c.3120A>G	ENSP00000512303.1:p.Lys1040=
ENST00000695981.1:c.3309A>G	ENSP00000512306.1:p.Lys1103=
ENST00000695984.1:c.1317A>G	ENSP00000512309.1:p.Lys439=
ENST00000695986.1:c.*2960A>G	ENSP00000512311.1:n.*2960A>G
ENST00000696026.1:c.*1591A>G	ENSP00000512335.1:n.*1591A>G
ENST00000696027.1:c.3303A>G	ENSP00000512336.1:p.Lys1101=
ENST00000696028.1:c.3237A>G	ENSP00000512337.1:p.Lys1079=
ENST00000696029.1:c.3303A>G	ENSP00000512338.1:p.Lys1101=
ENST00000696031.1:c.*2827A>G	ENSP00000512340.1:n.*2827A>G
ENST00000696032.1:c.3309A>G	ENSP00000512341.1:p.Lys1103=
ENST00000696033.1:c.1160-36170A>G	ENSP00000512342.1:n.1160-36170A>G
ENST00000367429.9:c.3309A>G MANE Select	ENSP00000356399.4:p.Lys1103=
ENST00000367429.8:c.3309A>G	ENSP00000356399.4:p.Lys1103=
ENST00000466229.5:n.6407A>G
NM_000186.3:c.3309A>G , LRG_47t1:c.3309A>G	NP_000177.2:p.Lys1103=
XR_001737134.2:n.3495A>G
NM_000186.4:c.3309A>G MANE Select	NP_000177.2:p.Lys1103=