Canonical Allele Identifier: CA343983156

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712620T>G (hg19) ; chr1:g.196743490T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743490T>G , CM000663.2:g.196743490T>G	GRCh38
NC_000001.10:g.196712620T>G , CM000663.1:g.196712620T>G	GRCh37
NC_000001.9:g.194979243T>G	NCBI36
NG_007259.1:g.96480T>G , LRG_47:g.96480T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4200T>G
ENST00000695970.1:c.2998T>G	ENSP00000512297.1:p.Tyr1000Asp
ENST00000695971.1:c.3151T>G	ENSP00000512298.1:p.Tyr1051Asp
ENST00000695972.1:c.*249T>G	ENSP00000512299.1:n.*249T>G
ENST00000695973.1:c.*1536T>G	ENSP00000512300.1:n.*1536T>G
ENST00000695974.1:c.2995T>G	ENSP00000512301.1:p.Tyr999Asp
ENST00000695975.1:c.*1299T>G	ENSP00000512302.1:n.*1299T>G
ENST00000695976.1:c.2983T>G	ENSP00000512303.1:p.Tyr995Asp
ENST00000695981.1:c.3172T>G	ENSP00000512306.1:p.Tyr1058Asp
ENST00000695984.1:c.1180T>G	ENSP00000512309.1:p.Tyr394Asp
ENST00000695986.1:c.*2823T>G	ENSP00000512311.1:n.*2823T>G
ENST00000696026.1:c.*1454T>G	ENSP00000512335.1:n.*1454T>G
ENST00000696027.1:c.3166T>G	ENSP00000512336.1:p.Tyr1056Asp
ENST00000696028.1:c.3100T>G	ENSP00000512337.1:p.Tyr1034Asp
ENST00000696029.1:c.3166T>G	ENSP00000512338.1:p.Tyr1056Asp
ENST00000696031.1:c.*2690T>G	ENSP00000512340.1:n.*2690T>G
ENST00000696032.1:c.3172T>G	ENSP00000512341.1:p.Tyr1058Asp
ENST00000696033.1:c.1160-36307T>G	ENSP00000512342.1:n.1160-36307T>G
ENST00000367429.9:c.3172T>G MANE Select	ENSP00000356399.4:p.Tyr1058Asp
ENST00000367429.8:c.3172T>G	ENSP00000356399.4:p.Tyr1058Asp
ENST00000466229.5:n.6270T>G
NM_000186.3:c.3172T>G , LRG_47t1:c.3172T>G	NP_000177.2:p.Tyr1058Asp
XR_001737134.2:n.3358T>G
NM_000186.4:c.3172T>G MANE Select	NP_000177.2:p.Tyr1058Asp