Canonical Allele Identifier: CA422662859

Gene: CFH

Linked Data

• gnomAD v4: 1-196743471-G-A
• MyVariant Identifiers: chr1:g.196712601G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743471G>A , CM000663.2:g.196743471G>A	GRCh38
NC_000001.10:g.196712601G>A , CM000663.1:g.196712601G>A	GRCh37
NC_000001.9:g.194979224G>A	NCBI36
NG_007259.1:g.96461G>A , LRG_47:g.96461G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4181G>A
ENST00000695970.1:c.2979G>A	ENSP00000512297.1:p.Pro993=
ENST00000695971.1:c.3132G>A	ENSP00000512298.1:p.Pro1044=
ENST00000695972.1:c.*230G>A	ENSP00000512299.1:n.*230G>A
ENST00000695973.1:c.*1517G>A	ENSP00000512300.1:n.*1517G>A
ENST00000695974.1:c.2976G>A	ENSP00000512301.1:p.Pro992=
ENST00000695975.1:c.*1280G>A	ENSP00000512302.1:n.*1280G>A
ENST00000695976.1:c.2964G>A	ENSP00000512303.1:p.Pro988=
ENST00000695981.1:c.3153G>A	ENSP00000512306.1:p.Pro1051=
ENST00000695984.1:c.1161G>A	ENSP00000512309.1:p.Pro387=
ENST00000695986.1:c.*2804G>A	ENSP00000512311.1:n.*2804G>A
ENST00000696026.1:c.*1435G>A	ENSP00000512335.1:n.*1435G>A
ENST00000696027.1:c.3147G>A	ENSP00000512336.1:p.Pro1049=
ENST00000696028.1:c.3081G>A	ENSP00000512337.1:p.Pro1027=
ENST00000696029.1:c.3147G>A	ENSP00000512338.1:p.Pro1049=
ENST00000696031.1:c.*2671G>A	ENSP00000512340.1:n.*2671G>A
ENST00000696032.1:c.3153G>A	ENSP00000512341.1:p.Pro1051=
ENST00000696033.1:c.1160-36326G>A	ENSP00000512342.1:n.1160-36326G>A
ENST00000367429.9:c.3153G>A MANE Select	ENSP00000356399.4:p.Pro1051=
ENST00000367429.8:c.3153G>A	ENSP00000356399.4:p.Pro1051=
ENST00000466229.5:n.6251G>A
NM_000186.3:c.3153G>A , LRG_47t1:c.3153G>A	NP_000177.2:p.Pro1051=
XR_001737134.2:n.3339G>A
NM_000186.4:c.3153G>A MANE Select	NP_000177.2:p.Pro1051=