Canonical Allele Identifier: CA343983147

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712618C>G (hg19) ; chr1:g.196743488C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743488C>G , CM000663.2:g.196743488C>G	GRCh38
NC_000001.10:g.196712618C>G , CM000663.1:g.196712618C>G	GRCh37
NC_000001.9:g.194979241C>G	NCBI36
NG_007259.1:g.96478C>G , LRG_47:g.96478C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4198C>G
ENST00000695970.1:c.2996C>G	ENSP00000512297.1:p.Ala999Gly
ENST00000695971.1:c.3149C>G	ENSP00000512298.1:p.Ala1050Gly
ENST00000695972.1:c.*247C>G	ENSP00000512299.1:n.*247C>G
ENST00000695973.1:c.*1534C>G	ENSP00000512300.1:n.*1534C>G
ENST00000695974.1:c.2993C>G	ENSP00000512301.1:p.Ala998Gly
ENST00000695975.1:c.*1297C>G	ENSP00000512302.1:n.*1297C>G
ENST00000695976.1:c.2981C>G	ENSP00000512303.1:p.Ala994Gly
ENST00000695981.1:c.3170C>G	ENSP00000512306.1:p.Ala1057Gly
ENST00000695984.1:c.1178C>G	ENSP00000512309.1:p.Ala393Gly
ENST00000695986.1:c.*2821C>G	ENSP00000512311.1:n.*2821C>G
ENST00000696026.1:c.*1452C>G	ENSP00000512335.1:n.*1452C>G
ENST00000696027.1:c.3164C>G	ENSP00000512336.1:p.Ala1055Gly
ENST00000696028.1:c.3098C>G	ENSP00000512337.1:p.Ala1033Gly
ENST00000696029.1:c.3164C>G	ENSP00000512338.1:p.Ala1055Gly
ENST00000696031.1:c.*2688C>G	ENSP00000512340.1:n.*2688C>G
ENST00000696032.1:c.3170C>G	ENSP00000512341.1:p.Ala1057Gly
ENST00000696033.1:c.1160-36309C>G	ENSP00000512342.1:n.1160-36309C>G
ENST00000367429.9:c.3170C>G MANE Select	ENSP00000356399.4:p.Ala1057Gly
ENST00000367429.8:c.3170C>G	ENSP00000356399.4:p.Ala1057Gly
ENST00000466229.5:n.6268C>G
NM_000186.3:c.3170C>G , LRG_47t1:c.3170C>G	NP_000177.2:p.Ala1057Gly
XR_001737134.2:n.3356C>G
NM_000186.4:c.3170C>G MANE Select	NP_000177.2:p.Ala1057Gly