Canonical Allele Identifier: CA1305874

Gene: CFH

Linked Data

• dbSNP Id: rs759231269
• ExAC: 1:196712650 C / T
• gnomAD v2: 1-196712650-C-T
• gnomAD v4: 1-196743520-C-T
• COSMIC: COSM5379008
• MyVariant Identifiers: chr1:g.196712650C>T (hg19) ; chr1:g.196743520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743520C>T , CM000663.2:g.196743520C>T	GRCh38
NC_000001.10:g.196712650C>T , CM000663.1:g.196712650C>T	GRCh37
NC_000001.9:g.194979273C>T	NCBI36
NG_007259.1:g.96510C>T , LRG_47:g.96510C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4230C>T
ENST00000695970.1:c.3028C>T	ENSP00000512297.1:p.Pro1010Ser
ENST00000695971.1:c.3181C>T	ENSP00000512298.1:p.Pro1061Ser
ENST00000695972.1:c.*279C>T	ENSP00000512299.1:n.*279C>T
ENST00000695973.1:c.*1566C>T	ENSP00000512300.1:n.*1566C>T
ENST00000695974.1:c.3025C>T	ENSP00000512301.1:p.Pro1009Ser
ENST00000695975.1:c.*1329C>T	ENSP00000512302.1:n.*1329C>T
ENST00000695976.1:c.3013C>T	ENSP00000512303.1:p.Pro1005Ser
ENST00000695981.1:c.3202C>T	ENSP00000512306.1:p.Pro1068Ser
ENST00000695984.1:c.1210C>T	ENSP00000512309.1:p.Pro404Ser
ENST00000695986.1:c.*2853C>T	ENSP00000512311.1:n.*2853C>T
ENST00000696026.1:c.*1484C>T	ENSP00000512335.1:n.*1484C>T
ENST00000696027.1:c.3196C>T	ENSP00000512336.1:p.Pro1066Ser
ENST00000696028.1:c.3130C>T	ENSP00000512337.1:p.Pro1044Ser
ENST00000696029.1:c.3196C>T	ENSP00000512338.1:p.Pro1066Ser
ENST00000696031.1:c.*2720C>T	ENSP00000512340.1:n.*2720C>T
ENST00000696032.1:c.3202C>T	ENSP00000512341.1:p.Pro1068Ser
ENST00000696033.1:c.1160-36277C>T	ENSP00000512342.1:n.1160-36277C>T
ENST00000367429.9:c.3202C>T MANE Select	ENSP00000356399.4:p.Pro1068Ser
ENST00000367429.8:c.3202C>T	ENSP00000356399.4:p.Pro1068Ser
ENST00000466229.5:n.6300C>T
NM_000186.3:c.3202C>T , LRG_47t1:c.3202C>T	NP_000177.2:p.Pro1068Ser
XR_001737134.2:n.3388C>T
NM_000186.4:c.3202C>T MANE Select	NP_000177.2:p.Pro1068Ser