Canonical Allele Identifier: CA343982861

Gene: CFH

Linked Data

• gnomAD v4: 1-196743469-C-T
• MyVariant Identifiers: chr1:g.196712599C>T (hg19) ; chr1:g.196743469C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743469C>T , CM000663.2:g.196743469C>T	GRCh38
NC_000001.10:g.196712599C>T , CM000663.1:g.196712599C>T	GRCh37
NC_000001.9:g.194979222C>T	NCBI36
NG_007259.1:g.96459C>T , LRG_47:g.96459C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4179C>T
ENST00000695970.1:c.2977C>T	ENSP00000512297.1:p.Pro993Ser
ENST00000695971.1:c.3130C>T	ENSP00000512298.1:p.Pro1044Ser
ENST00000695972.1:c.*228C>T	ENSP00000512299.1:n.*228C>T
ENST00000695973.1:c.*1515C>T	ENSP00000512300.1:n.*1515C>T
ENST00000695974.1:c.2974C>T	ENSP00000512301.1:p.Pro992Ser
ENST00000695975.1:c.*1278C>T	ENSP00000512302.1:n.*1278C>T
ENST00000695976.1:c.2962C>T	ENSP00000512303.1:p.Pro988Ser
ENST00000695981.1:c.3151C>T	ENSP00000512306.1:p.Pro1051Ser
ENST00000695984.1:c.1159C>T	ENSP00000512309.1:p.Pro387Ser
ENST00000695986.1:c.*2802C>T	ENSP00000512311.1:n.*2802C>T
ENST00000696026.1:c.*1433C>T	ENSP00000512335.1:n.*1433C>T
ENST00000696027.1:c.3145C>T	ENSP00000512336.1:p.Pro1049Ser
ENST00000696028.1:c.3079C>T	ENSP00000512337.1:p.Pro1027Ser
ENST00000696029.1:c.3145C>T	ENSP00000512338.1:p.Pro1049Ser
ENST00000696031.1:c.*2669C>T	ENSP00000512340.1:n.*2669C>T
ENST00000696032.1:c.3151C>T	ENSP00000512341.1:p.Pro1051Ser
ENST00000696033.1:c.1160-36328C>T	ENSP00000512342.1:n.1160-36328C>T
ENST00000367429.9:c.3151C>T MANE Select	ENSP00000356399.4:p.Pro1051Ser
ENST00000367429.8:c.3151C>T	ENSP00000356399.4:p.Pro1051Ser
ENST00000466229.5:n.6249C>T
NM_000186.3:c.3151C>T , LRG_47t1:c.3151C>T	NP_000177.2:p.Pro1051Ser
XR_001737134.2:n.3337C>T
NM_000186.4:c.3151C>T MANE Select	NP_000177.2:p.Pro1051Ser