Canonical Allele Identifier: CA343984096

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712746C>T (hg19) ; chr1:g.196743616C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743616C>T , CM000663.2:g.196743616C>T	GRCh38
NC_000001.10:g.196712746C>T , CM000663.1:g.196712746C>T	GRCh37
NC_000001.9:g.194979369C>T	NCBI36
NG_007259.1:g.96606C>T , LRG_47:g.96606C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4326C>T
ENST00000695970.1:c.3124C>T	ENSP00000512297.1:p.Pro1042Ser
ENST00000695971.1:c.3277C>T	ENSP00000512298.1:p.Pro1093Ser
ENST00000695972.1:c.*375C>T	ENSP00000512299.1:n.*375C>T
ENST00000695973.1:c.*1662C>T	ENSP00000512300.1:n.*1662C>T
ENST00000695974.1:c.3121C>T	ENSP00000512301.1:p.Pro1041Ser
ENST00000695975.1:c.*1425C>T	ENSP00000512302.1:n.*1425C>T
ENST00000695976.1:c.3109C>T	ENSP00000512303.1:p.Pro1037Ser
ENST00000695981.1:c.3298C>T	ENSP00000512306.1:p.Pro1100Ser
ENST00000695984.1:c.1306C>T	ENSP00000512309.1:p.Pro436Ser
ENST00000695986.1:c.*2949C>T	ENSP00000512311.1:n.*2949C>T
ENST00000696026.1:c.*1580C>T	ENSP00000512335.1:n.*1580C>T
ENST00000696027.1:c.3292C>T	ENSP00000512336.1:p.Pro1098Ser
ENST00000696028.1:c.3226C>T	ENSP00000512337.1:p.Pro1076Ser
ENST00000696029.1:c.3292C>T	ENSP00000512338.1:p.Pro1098Ser
ENST00000696031.1:c.*2816C>T	ENSP00000512340.1:n.*2816C>T
ENST00000696032.1:c.3298C>T	ENSP00000512341.1:p.Pro1100Ser
ENST00000696033.1:c.1160-36181C>T	ENSP00000512342.1:n.1160-36181C>T
ENST00000367429.9:c.3298C>T MANE Select	ENSP00000356399.4:p.Pro1100Ser
ENST00000367429.8:c.3298C>T	ENSP00000356399.4:p.Pro1100Ser
ENST00000466229.5:n.6396C>T
NM_000186.3:c.3298C>T , LRG_47t1:c.3298C>T	NP_000177.2:p.Pro1100Ser
XR_001737134.2:n.3484C>T
NM_000186.4:c.3298C>T MANE Select	NP_000177.2:p.Pro1100Ser