Canonical Allele Identifier: CA528534090

Gene: CFH

Linked Data

• dbSNP Id: rs1324746735
• gnomAD v2: 1-196712508-T-A
• gnomAD v3: 1-196743378-T-A
• gnomAD v4: 1-196743378-T-A
• MyVariant Identifiers: chr1:g.196712508T>A (hg19) ; chr1:g.196743378T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743378T>A , CM000663.2:g.196743378T>A	GRCh38
NC_000001.10:g.196712508T>A , CM000663.1:g.196712508T>A	GRCh37
NC_000001.9:g.194979131T>A	NCBI36
NG_007259.1:g.96368T>A , LRG_47:g.96368T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4162-74T>A
ENST00000695970.1:c.2960-74T>A	ENSP00000512297.1:n.2960-74T>A
ENST00000695971.1:c.3113-74T>A	ENSP00000512298.1:n.3113-74T>A
ENST00000695972.1:c.*211-74T>A	ENSP00000512299.1:n.*211-74T>A
ENST00000695973.1:c.*1498-74T>A	ENSP00000512300.1:n.*1498-74T>A
ENST00000695974.1:c.2957-74T>A	ENSP00000512301.1:n.2957-74T>A
ENST00000695975.1:c.*1261-74T>A	ENSP00000512302.1:n.*1261-74T>A
ENST00000695976.1:c.2945-74T>A	ENSP00000512303.1:n.2945-74T>A
ENST00000695981.1:c.3134-74T>A	ENSP00000512306.1:n.3134-74T>A
ENST00000695984.1:c.1142-74T>A	ENSP00000512309.1:n.1142-74T>A
ENST00000695986.1:c.*2785-74T>A	ENSP00000512311.1:n.*2785-74T>A
ENST00000696026.1:c.*1416-74T>A	ENSP00000512335.1:n.*1416-74T>A
ENST00000696027.1:c.3128-74T>A	ENSP00000512336.1:n.3128-74T>A
ENST00000696028.1:c.3062-74T>A	ENSP00000512337.1:n.3062-74T>A
ENST00000696029.1:c.3128-74T>A	ENSP00000512338.1:n.3128-74T>A
ENST00000696031.1:c.*2652-74T>A	ENSP00000512340.1:n.*2652-74T>A
ENST00000696032.1:c.3134-74T>A	ENSP00000512341.1:n.3134-74T>A
ENST00000696033.1:c.1160-36419T>A	ENSP00000512342.1:n.1160-36419T>A
ENST00000367429.9:c.3134-74T>A MANE Select	ENSP00000356399.4:n.3134-74T>A
ENST00000367429.8:c.3134-74T>A	ENSP00000356399.4:n.3134-74T>A
ENST00000466229.5:n.6232-74T>A
NM_000186.3:c.3134-74T>A , LRG_47t1:c.3134-74T>A	NP_000177.2:n.3134-74T>A
XR_001737134.2:n.3320-74T>A
NM_000186.4:c.3134-74T>A MANE Select	NP_000177.2:n.3134-74T>A