Canonical Allele Identifier: CA343984089

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712744C>A (hg19) ; chr1:g.196743614C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743614C>A , CM000663.2:g.196743614C>A	GRCh38
NC_000001.10:g.196712744C>A , CM000663.1:g.196712744C>A	GRCh37
NC_000001.9:g.194979367C>A	NCBI36
NG_007259.1:g.96604C>A , LRG_47:g.96604C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4324C>A
ENST00000695970.1:c.3122C>A	ENSP00000512297.1:p.Pro1041Gln
ENST00000695971.1:c.3275C>A	ENSP00000512298.1:p.Pro1092Gln
ENST00000695972.1:c.*373C>A	ENSP00000512299.1:n.*373C>A
ENST00000695973.1:c.*1660C>A	ENSP00000512300.1:n.*1660C>A
ENST00000695974.1:c.3119C>A	ENSP00000512301.1:p.Pro1040Gln
ENST00000695975.1:c.*1423C>A	ENSP00000512302.1:n.*1423C>A
ENST00000695976.1:c.3107C>A	ENSP00000512303.1:p.Pro1036Gln
ENST00000695981.1:c.3296C>A	ENSP00000512306.1:p.Pro1099Gln
ENST00000695984.1:c.1304C>A	ENSP00000512309.1:p.Pro435Gln
ENST00000695986.1:c.*2947C>A	ENSP00000512311.1:n.*2947C>A
ENST00000696026.1:c.*1578C>A	ENSP00000512335.1:n.*1578C>A
ENST00000696027.1:c.3290C>A	ENSP00000512336.1:p.Pro1097Gln
ENST00000696028.1:c.3224C>A	ENSP00000512337.1:p.Pro1075Gln
ENST00000696029.1:c.3290C>A	ENSP00000512338.1:p.Pro1097Gln
ENST00000696031.1:c.*2814C>A	ENSP00000512340.1:n.*2814C>A
ENST00000696032.1:c.3296C>A	ENSP00000512341.1:p.Pro1099Gln
ENST00000696033.1:c.1160-36183C>A	ENSP00000512342.1:n.1160-36183C>A
ENST00000367429.9:c.3296C>A MANE Select	ENSP00000356399.4:p.Pro1099Gln
ENST00000367429.8:c.3296C>A	ENSP00000356399.4:p.Pro1099Gln
ENST00000466229.5:n.6394C>A
NM_000186.3:c.3296C>A , LRG_47t1:c.3296C>A	NP_000177.2:p.Pro1099Gln
XR_001737134.2:n.3482C>A
NM_000186.4:c.3296C>A MANE Select	NP_000177.2:p.Pro1099Gln