Canonical Allele Identifier: CA343983160

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712621A>C (hg19) ; chr1:g.196743491A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743491A>C , CM000663.2:g.196743491A>C	GRCh38
NC_000001.10:g.196712621A>C , CM000663.1:g.196712621A>C	GRCh37
NC_000001.9:g.194979244A>C	NCBI36
NG_007259.1:g.96481A>C , LRG_47:g.96481A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4201A>C
ENST00000695970.1:c.2999A>C	ENSP00000512297.1:p.Tyr1000Ser
ENST00000695971.1:c.3152A>C	ENSP00000512298.1:p.Tyr1051Ser
ENST00000695972.1:c.*250A>C	ENSP00000512299.1:n.*250A>C
ENST00000695973.1:c.*1537A>C	ENSP00000512300.1:n.*1537A>C
ENST00000695974.1:c.2996A>C	ENSP00000512301.1:p.Tyr999Ser
ENST00000695975.1:c.*1300A>C	ENSP00000512302.1:n.*1300A>C
ENST00000695976.1:c.2984A>C	ENSP00000512303.1:p.Tyr995Ser
ENST00000695981.1:c.3173A>C	ENSP00000512306.1:p.Tyr1058Ser
ENST00000695984.1:c.1181A>C	ENSP00000512309.1:p.Tyr394Ser
ENST00000695986.1:c.*2824A>C	ENSP00000512311.1:n.*2824A>C
ENST00000696026.1:c.*1455A>C	ENSP00000512335.1:n.*1455A>C
ENST00000696027.1:c.3167A>C	ENSP00000512336.1:p.Tyr1056Ser
ENST00000696028.1:c.3101A>C	ENSP00000512337.1:p.Tyr1034Ser
ENST00000696029.1:c.3167A>C	ENSP00000512338.1:p.Tyr1056Ser
ENST00000696031.1:c.*2691A>C	ENSP00000512340.1:n.*2691A>C
ENST00000696032.1:c.3173A>C	ENSP00000512341.1:p.Tyr1058Ser
ENST00000696033.1:c.1160-36306A>C	ENSP00000512342.1:n.1160-36306A>C
ENST00000367429.9:c.3173A>C MANE Select	ENSP00000356399.4:p.Tyr1058Ser
ENST00000367429.8:c.3173A>C	ENSP00000356399.4:p.Tyr1058Ser
ENST00000466229.5:n.6271A>C
NM_000186.3:c.3173A>C , LRG_47t1:c.3173A>C	NP_000177.2:p.Tyr1058Ser
XR_001737134.2:n.3359A>C
NM_000186.4:c.3173A>C MANE Select	NP_000177.2:p.Tyr1058Ser