Canonical Allele Identifier: CA343987259

Gene: CFH

Linked Data

• ClinVar Variation Id: 1711233
• ClinVar RCV Id: RCV002292749
• MyVariant Identifiers: chr1:g.196716278T>G (hg19) ; chr1:g.196747148T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747148T>G , CM000663.2:g.196747148T>G	GRCh38
NC_000001.10:g.196716278T>G , CM000663.1:g.196716278T>G	GRCh37
NC_000001.9:g.194982901T>G	NCBI36
NG_007259.1:g.100138T>G , LRG_47:g.100138T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4559T>G
ENST00000695970.1:c.3357T>G	ENSP00000512297.1:p.Tyr1119Ter
ENST00000695971.1:c.3510T>G	ENSP00000512298.1:p.Tyr1170Ter
ENST00000695972.1:c.*608T>G	ENSP00000512299.1:n.*608T>G
ENST00000695973.1:c.*1895T>G	ENSP00000512300.1:n.*1895T>G
ENST00000695974.1:c.3354T>G	ENSP00000512301.1:p.Tyr1118Ter
ENST00000695975.1:c.*1658T>G	ENSP00000512302.1:n.*1658T>G
ENST00000695976.1:c.3342T>G	ENSP00000512303.1:p.Tyr1114Ter
ENST00000695981.1:c.3531T>G	ENSP00000512306.1:p.Tyr1177Ter
ENST00000695984.1:c.1539T>G	ENSP00000512309.1:p.Tyr513Ter
ENST00000695986.1:c.*3182T>G	ENSP00000512311.1:n.*3182T>G
ENST00000695990.1:n.565T>G
ENST00000696026.1:c.*1813T>G	ENSP00000512335.1:n.*1813T>G
ENST00000696027.1:c.3525T>G	ENSP00000512336.1:p.Tyr1175Ter
ENST00000696028.1:c.3459T>G	ENSP00000512337.1:p.Tyr1153Ter
ENST00000696029.1:c.3525T>G	ENSP00000512338.1:p.Tyr1175Ter
ENST00000696031.1:c.*3049T>G	ENSP00000512340.1:n.*3049T>G
ENST00000696032.1:c.3531T>G	ENSP00000512341.1:p.Tyr1177Ter
ENST00000696033.1:c.1160-32649T>G	ENSP00000512342.1:n.1160-32649T>G
ENST00000367429.9:c.3531T>G MANE Select	ENSP00000356399.4:p.Tyr1177Ter
ENST00000367429.8:c.3531T>G	ENSP00000356399.4:p.Tyr1177Ter
ENST00000466229.5:n.6629T>G
NM_000186.3:c.3531T>G , LRG_47t1:c.3531T>G	NP_000177.2:p.Tyr1177Ter
XR_001737134.2:n.3717T>G
NM_000186.4:c.3531T>G MANE Select	NP_000177.2:p.Tyr1177Ter