Canonical Allele Identifier: CA1306005

Gene: CFH

Linked Data

• dbSNP Id: rs200638179
• ExAC: 1:196716458 T / A
• gnomAD v2: 1-196716458-T-A
• gnomAD v4: 1-196747328-T-A
• MyVariant Identifiers: chr1:g.196716458T>A (hg19) ; chr1:g.196747328T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747328T>A , CM000663.2:g.196747328T>A	GRCh38
NC_000001.10:g.196716458T>A , CM000663.1:g.196716458T>A	GRCh37
NC_000001.9:g.194983081T>A	NCBI36
NG_007259.1:g.100318T>A , LRG_47:g.100318T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4739T>A
ENST00000695970.1:c.*15T>A	ENSP00000512297.1:n.*15T>A
ENST00000695971.1:c.*15T>A	ENSP00000512298.1:n.*15T>A
ENST00000695972.1:c.*788T>A	ENSP00000512299.1:n.*788T>A
ENST00000695973.1:c.*2075T>A	ENSP00000512300.1:n.*2075T>A
ENST00000695974.1:c.*15T>A	ENSP00000512301.1:n.*15T>A
ENST00000695975.1:c.*1838T>A	ENSP00000512302.1:n.*1838T>A
ENST00000695976.1:c.*15T>A	ENSP00000512303.1:n.*15T>A
ENST00000695981.1:c.3580+131T>A	ENSP00000512306.1:n.3580+131T>A
ENST00000695984.1:c.*15T>A	ENSP00000512309.1:n.*15T>A
ENST00000695986.1:c.*3362T>A	ENSP00000512311.1:n.*3362T>A
ENST00000695990.1:n.745T>A
ENST00000696026.1:c.*1993T>A	ENSP00000512335.1:n.*1993T>A
ENST00000696027.1:c.*15T>A	ENSP00000512336.1:n.*15T>A
ENST00000696028.1:c.*15T>A	ENSP00000512337.1:n.*15T>A
ENST00000696029.1:c.*15T>A	ENSP00000512338.1:n.*15T>A
ENST00000696031.1:c.*3229T>A	ENSP00000512340.1:n.*3229T>A
ENST00000696032.1:c.3580+131T>A	ENSP00000512341.1:n.3580+131T>A
ENST00000696033.1:c.1160-32469T>A	ENSP00000512342.1:n.1160-32469T>A
ENST00000367429.9:c.*15T>A MANE Select	ENSP00000356399.4:n.*15T>A
ENST00000367429.8:c.*15T>A	ENSP00000356399.4:n.*15T>A
ENST00000466229.5:n.6809T>A
NM_000186.3:c.*15T>A , LRG_47t1:c.*15T>A	NP_000177.2:n.*15T>A
XR_001737134.2:n.3897T>A
NM_000186.4:c.*15T>A MANE Select	NP_000177.2:n.*15T>A