Canonical Allele Identifier: CA1305840

Gene: CFH

Linked Data

• dbSNP Id: rs539279880
• ExAC: 1:196712544 G / T
• gnomAD v2: 1-196712544-G-T
• gnomAD v3: 1-196743414-G-T
• gnomAD v4: 1-196743414-G-T
• MyVariant Identifiers: chr1:g.196712544G>T (hg19) ; chr1:g.196743414G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743414G>T , CM000663.2:g.196743414G>T	GRCh38
NC_000001.10:g.196712544G>T , CM000663.1:g.196712544G>T	GRCh37
NC_000001.9:g.194979167G>T	NCBI36
NG_007259.1:g.96404G>T , LRG_47:g.96404G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4162-38G>T
ENST00000695970.1:c.2960-38G>T	ENSP00000512297.1:n.2960-38G>T
ENST00000695971.1:c.3113-38G>T	ENSP00000512298.1:n.3113-38G>T
ENST00000695972.1:c.*211-38G>T	ENSP00000512299.1:n.*211-38G>T
ENST00000695973.1:c.*1498-38G>T	ENSP00000512300.1:n.*1498-38G>T
ENST00000695974.1:c.2957-38G>T	ENSP00000512301.1:n.2957-38G>T
ENST00000695975.1:c.*1261-38G>T	ENSP00000512302.1:n.*1261-38G>T
ENST00000695976.1:c.2945-38G>T	ENSP00000512303.1:n.2945-38G>T
ENST00000695981.1:c.3134-38G>T	ENSP00000512306.1:n.3134-38G>T
ENST00000695984.1:c.1142-38G>T	ENSP00000512309.1:n.1142-38G>T
ENST00000695986.1:c.*2785-38G>T	ENSP00000512311.1:n.*2785-38G>T
ENST00000696026.1:c.*1416-38G>T	ENSP00000512335.1:n.*1416-38G>T
ENST00000696027.1:c.3128-38G>T	ENSP00000512336.1:n.3128-38G>T
ENST00000696028.1:c.3062-38G>T	ENSP00000512337.1:n.3062-38G>T
ENST00000696029.1:c.3128-38G>T	ENSP00000512338.1:n.3128-38G>T
ENST00000696031.1:c.*2652-38G>T	ENSP00000512340.1:n.*2652-38G>T
ENST00000696032.1:c.3134-38G>T	ENSP00000512341.1:n.3134-38G>T
ENST00000696033.1:c.1160-36383G>T	ENSP00000512342.1:n.1160-36383G>T
ENST00000367429.9:c.3134-38G>T MANE Select	ENSP00000356399.4:n.3134-38G>T
ENST00000367429.8:c.3134-38G>T	ENSP00000356399.4:n.3134-38G>T
ENST00000466229.5:n.6232-38G>T
NM_000186.3:c.3134-38G>T , LRG_47t1:c.3134-38G>T	NP_000177.2:n.3134-38G>T
XR_001737134.2:n.3320-38G>T
NM_000186.4:c.3134-38G>T MANE Select	NP_000177.2:n.3134-38G>T