Canonical Allele Identifier: CA343982753

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712587T>C (hg19) ; chr1:g.196743457T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743457T>C , CM000663.2:g.196743457T>C	GRCh38
NC_000001.10:g.196712587T>C , CM000663.1:g.196712587T>C	GRCh37
NC_000001.9:g.194979210T>C	NCBI36
NG_007259.1:g.96447T>C , LRG_47:g.96447T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4167T>C
ENST00000695970.1:c.2965T>C	ENSP00000512297.1:p.Ser989Pro
ENST00000695971.1:c.3118T>C	ENSP00000512298.1:p.Ser1040Pro
ENST00000695972.1:c.*216T>C	ENSP00000512299.1:n.*216T>C
ENST00000695973.1:c.*1503T>C	ENSP00000512300.1:n.*1503T>C
ENST00000695974.1:c.2962T>C	ENSP00000512301.1:p.Ser988Pro
ENST00000695975.1:c.*1266T>C	ENSP00000512302.1:n.*1266T>C
ENST00000695976.1:c.2950T>C	ENSP00000512303.1:p.Ser984Pro
ENST00000695981.1:c.3139T>C	ENSP00000512306.1:p.Ser1047Pro
ENST00000695984.1:c.1147T>C	ENSP00000512309.1:p.Ser383Pro
ENST00000695986.1:c.*2790T>C	ENSP00000512311.1:n.*2790T>C
ENST00000696026.1:c.*1421T>C	ENSP00000512335.1:n.*1421T>C
ENST00000696027.1:c.3133T>C	ENSP00000512336.1:p.Ser1045Pro
ENST00000696028.1:c.3067T>C	ENSP00000512337.1:p.Ser1023Pro
ENST00000696029.1:c.3133T>C	ENSP00000512338.1:p.Ser1045Pro
ENST00000696031.1:c.*2657T>C	ENSP00000512340.1:n.*2657T>C
ENST00000696032.1:c.3139T>C	ENSP00000512341.1:p.Ser1047Pro
ENST00000696033.1:c.1160-36340T>C	ENSP00000512342.1:n.1160-36340T>C
ENST00000367429.9:c.3139T>C MANE Select	ENSP00000356399.4:p.Ser1047Pro
ENST00000367429.8:c.3139T>C	ENSP00000356399.4:p.Ser1047Pro
ENST00000466229.5:n.6237T>C
NM_000186.3:c.3139T>C , LRG_47t1:c.3139T>C	NP_000177.2:p.Ser1047Pro
XR_001737134.2:n.3325T>C
NM_000186.4:c.3139T>C MANE Select	NP_000177.2:p.Ser1047Pro