Canonical Allele Identifier: CA343983325

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712639T>A (hg19) ; chr1:g.196743509T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743509T>A , CM000663.2:g.196743509T>A	GRCh38
NC_000001.10:g.196712639T>A , CM000663.1:g.196712639T>A	GRCh37
NC_000001.9:g.194979262T>A	NCBI36
NG_007259.1:g.96499T>A , LRG_47:g.96499T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4219T>A
ENST00000695970.1:c.3017T>A	ENSP00000512297.1:p.Met1006Lys
ENST00000695971.1:c.3170T>A	ENSP00000512298.1:p.Met1057Lys
ENST00000695972.1:c.*268T>A	ENSP00000512299.1:n.*268T>A
ENST00000695973.1:c.*1555T>A	ENSP00000512300.1:n.*1555T>A
ENST00000695974.1:c.3014T>A	ENSP00000512301.1:p.Met1005Lys
ENST00000695975.1:c.*1318T>A	ENSP00000512302.1:n.*1318T>A
ENST00000695976.1:c.3002T>A	ENSP00000512303.1:p.Met1001Lys
ENST00000695981.1:c.3191T>A	ENSP00000512306.1:p.Met1064Lys
ENST00000695984.1:c.1199T>A	ENSP00000512309.1:p.Met400Lys
ENST00000695986.1:c.*2842T>A	ENSP00000512311.1:n.*2842T>A
ENST00000696026.1:c.*1473T>A	ENSP00000512335.1:n.*1473T>A
ENST00000696027.1:c.3185T>A	ENSP00000512336.1:p.Met1062Lys
ENST00000696028.1:c.3119T>A	ENSP00000512337.1:p.Met1040Lys
ENST00000696029.1:c.3185T>A	ENSP00000512338.1:p.Met1062Lys
ENST00000696031.1:c.*2709T>A	ENSP00000512340.1:n.*2709T>A
ENST00000696032.1:c.3191T>A	ENSP00000512341.1:p.Met1064Lys
ENST00000696033.1:c.1160-36288T>A	ENSP00000512342.1:n.1160-36288T>A
ENST00000367429.9:c.3191T>A MANE Select	ENSP00000356399.4:p.Met1064Lys
ENST00000367429.8:c.3191T>A	ENSP00000356399.4:p.Met1064Lys
ENST00000466229.5:n.6289T>A
NM_000186.3:c.3191T>A , LRG_47t1:c.3191T>A	NP_000177.2:p.Met1064Lys
XR_001737134.2:n.3377T>A
NM_000186.4:c.3191T>A MANE Select	NP_000177.2:p.Met1064Lys