Canonical Allele Identifier: CA343983970

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712723T>C (hg19) ; chr1:g.196743593T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743593T>C , CM000663.2:g.196743593T>C	GRCh38
NC_000001.10:g.196712723T>C , CM000663.1:g.196712723T>C	GRCh37
NC_000001.9:g.194979346T>C	NCBI36
NG_007259.1:g.96583T>C , LRG_47:g.96583T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4303T>C
ENST00000695970.1:c.3101T>C	ENSP00000512297.1:p.Leu1034Ser
ENST00000695971.1:c.3254T>C	ENSP00000512298.1:p.Leu1085Ser
ENST00000695972.1:c.*352T>C	ENSP00000512299.1:n.*352T>C
ENST00000695973.1:c.*1639T>C	ENSP00000512300.1:n.*1639T>C
ENST00000695974.1:c.3098T>C	ENSP00000512301.1:p.Leu1033Ser
ENST00000695975.1:c.*1402T>C	ENSP00000512302.1:n.*1402T>C
ENST00000695976.1:c.3086T>C	ENSP00000512303.1:p.Leu1029Ser
ENST00000695981.1:c.3275T>C	ENSP00000512306.1:p.Leu1092Ser
ENST00000695984.1:c.1283T>C	ENSP00000512309.1:p.Leu428Ser
ENST00000695986.1:c.*2926T>C	ENSP00000512311.1:n.*2926T>C
ENST00000696026.1:c.*1557T>C	ENSP00000512335.1:n.*1557T>C
ENST00000696027.1:c.3269T>C	ENSP00000512336.1:p.Leu1090Ser
ENST00000696028.1:c.3203T>C	ENSP00000512337.1:p.Leu1068Ser
ENST00000696029.1:c.3269T>C	ENSP00000512338.1:p.Leu1090Ser
ENST00000696031.1:c.*2793T>C	ENSP00000512340.1:n.*2793T>C
ENST00000696032.1:c.3275T>C	ENSP00000512341.1:p.Leu1092Ser
ENST00000696033.1:c.1160-36204T>C	ENSP00000512342.1:n.1160-36204T>C
ENST00000367429.9:c.3275T>C MANE Select	ENSP00000356399.4:p.Leu1092Ser
ENST00000367429.8:c.3275T>C	ENSP00000356399.4:p.Leu1092Ser
ENST00000466229.5:n.6373T>C
NM_000186.3:c.3275T>C , LRG_47t1:c.3275T>C	NP_000177.2:p.Leu1092Ser
XR_001737134.2:n.3461T>C
NM_000186.4:c.3275T>C MANE Select	NP_000177.2:p.Leu1092Ser