Canonical Allele Identifier: CA343984102

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712747C>A (hg19) ; chr1:g.196743617C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743617C>A , CM000663.2:g.196743617C>A	GRCh38
NC_000001.10:g.196712747C>A , CM000663.1:g.196712747C>A	GRCh37
NC_000001.9:g.194979370C>A	NCBI36
NG_007259.1:g.96607C>A , LRG_47:g.96607C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4327C>A
ENST00000695970.1:c.3125C>A	ENSP00000512297.1:p.Pro1042His
ENST00000695971.1:c.3278C>A	ENSP00000512298.1:p.Pro1093His
ENST00000695972.1:c.*376C>A	ENSP00000512299.1:n.*376C>A
ENST00000695973.1:c.*1663C>A	ENSP00000512300.1:n.*1663C>A
ENST00000695974.1:c.3122C>A	ENSP00000512301.1:p.Pro1041His
ENST00000695975.1:c.*1426C>A	ENSP00000512302.1:n.*1426C>A
ENST00000695976.1:c.3110C>A	ENSP00000512303.1:p.Pro1037His
ENST00000695981.1:c.3299C>A	ENSP00000512306.1:p.Pro1100His
ENST00000695984.1:c.1307C>A	ENSP00000512309.1:p.Pro436His
ENST00000695986.1:c.*2950C>A	ENSP00000512311.1:n.*2950C>A
ENST00000696026.1:c.*1581C>A	ENSP00000512335.1:n.*1581C>A
ENST00000696027.1:c.3293C>A	ENSP00000512336.1:p.Pro1098His
ENST00000696028.1:c.3227C>A	ENSP00000512337.1:p.Pro1076His
ENST00000696029.1:c.3293C>A	ENSP00000512338.1:p.Pro1098His
ENST00000696031.1:c.*2817C>A	ENSP00000512340.1:n.*2817C>A
ENST00000696032.1:c.3299C>A	ENSP00000512341.1:p.Pro1100His
ENST00000696033.1:c.1160-36180C>A	ENSP00000512342.1:n.1160-36180C>A
ENST00000367429.9:c.3299C>A MANE Select	ENSP00000356399.4:p.Pro1100His
ENST00000367429.8:c.3299C>A	ENSP00000356399.4:p.Pro1100His
ENST00000466229.5:n.6397C>A
NM_000186.3:c.3299C>A , LRG_47t1:c.3299C>A	NP_000177.2:p.Pro1100His
XR_001737134.2:n.3485C>A
NM_000186.4:c.3299C>A MANE Select	NP_000177.2:p.Pro1100His