Canonical Allele Identifier: CA343983824

Gene: CFH

Linked Data

• COSMIC: COSM677341
• MyVariant Identifiers: chr1:g.196712697G>T (hg19) ; chr1:g.196743567G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743567G>T , CM000663.2:g.196743567G>T	GRCh38
NC_000001.10:g.196712697G>T , CM000663.1:g.196712697G>T	GRCh37
NC_000001.9:g.194979320G>T	NCBI36
NG_007259.1:g.96557G>T , LRG_47:g.96557G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4277G>T
ENST00000695970.1:c.3075G>T	ENSP00000512297.1:p.Met1025Ile
ENST00000695971.1:c.3228G>T	ENSP00000512298.1:p.Met1076Ile
ENST00000695972.1:c.*326G>T	ENSP00000512299.1:n.*326G>T
ENST00000695973.1:c.*1613G>T	ENSP00000512300.1:n.*1613G>T
ENST00000695974.1:c.3072G>T	ENSP00000512301.1:p.Met1024Ile
ENST00000695975.1:c.*1376G>T	ENSP00000512302.1:n.*1376G>T
ENST00000695976.1:c.3060G>T	ENSP00000512303.1:p.Met1020Ile
ENST00000695981.1:c.3249G>T	ENSP00000512306.1:p.Met1083Ile
ENST00000695984.1:c.1257G>T	ENSP00000512309.1:p.Met419Ile
ENST00000695986.1:c.*2900G>T	ENSP00000512311.1:n.*2900G>T
ENST00000696026.1:c.*1531G>T	ENSP00000512335.1:n.*1531G>T
ENST00000696027.1:c.3243G>T	ENSP00000512336.1:p.Met1081Ile
ENST00000696028.1:c.3177G>T	ENSP00000512337.1:p.Met1059Ile
ENST00000696029.1:c.3243G>T	ENSP00000512338.1:p.Met1081Ile
ENST00000696031.1:c.*2767G>T	ENSP00000512340.1:n.*2767G>T
ENST00000696032.1:c.3249G>T	ENSP00000512341.1:p.Met1083Ile
ENST00000696033.1:c.1160-36230G>T	ENSP00000512342.1:n.1160-36230G>T
ENST00000367429.9:c.3249G>T MANE Select	ENSP00000356399.4:p.Met1083Ile
ENST00000367429.8:c.3249G>T	ENSP00000356399.4:p.Met1083Ile
ENST00000466229.5:n.6347G>T
NM_000186.3:c.3249G>T , LRG_47t1:c.3249G>T	NP_000177.2:p.Met1083Ile
XR_001737134.2:n.3435G>T
NM_000186.4:c.3249G>T MANE Select	NP_000177.2:p.Met1083Ile