Canonical Allele Identifier: CA1305859

Gene: CFH

Linked Data

• dbSNP Id: rs375365236
• ExAC: 1:196712600 C / T
• gnomAD v2: 1-196712600-C-T
• gnomAD v3: 1-196743470-C-T
• gnomAD v4: 1-196743470-C-T
• MyVariant Identifiers: chr1:g.196712600C>T (hg19) ; chr1:g.196743470C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743470C>T , CM000663.2:g.196743470C>T	GRCh38
NC_000001.10:g.196712600C>T , CM000663.1:g.196712600C>T	GRCh37
NC_000001.9:g.194979223C>T	NCBI36
NG_007259.1:g.96460C>T , LRG_47:g.96460C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4180C>T
ENST00000695970.1:c.2978C>T	ENSP00000512297.1:p.Pro993Leu
ENST00000695971.1:c.3131C>T	ENSP00000512298.1:p.Pro1044Leu
ENST00000695972.1:c.*229C>T	ENSP00000512299.1:n.*229C>T
ENST00000695973.1:c.*1516C>T	ENSP00000512300.1:n.*1516C>T
ENST00000695974.1:c.2975C>T	ENSP00000512301.1:p.Pro992Leu
ENST00000695975.1:c.*1279C>T	ENSP00000512302.1:n.*1279C>T
ENST00000695976.1:c.2963C>T	ENSP00000512303.1:p.Pro988Leu
ENST00000695981.1:c.3152C>T	ENSP00000512306.1:p.Pro1051Leu
ENST00000695984.1:c.1160C>T	ENSP00000512309.1:p.Pro387Leu
ENST00000695986.1:c.*2803C>T	ENSP00000512311.1:n.*2803C>T
ENST00000696026.1:c.*1434C>T	ENSP00000512335.1:n.*1434C>T
ENST00000696027.1:c.3146C>T	ENSP00000512336.1:p.Pro1049Leu
ENST00000696028.1:c.3080C>T	ENSP00000512337.1:p.Pro1027Leu
ENST00000696029.1:c.3146C>T	ENSP00000512338.1:p.Pro1049Leu
ENST00000696031.1:c.*2670C>T	ENSP00000512340.1:n.*2670C>T
ENST00000696032.1:c.3152C>T	ENSP00000512341.1:p.Pro1051Leu
ENST00000696033.1:c.1160-36327C>T	ENSP00000512342.1:n.1160-36327C>T
ENST00000367429.9:c.3152C>T MANE Select	ENSP00000356399.4:p.Pro1051Leu
ENST00000367429.8:c.3152C>T	ENSP00000356399.4:p.Pro1051Leu
ENST00000466229.5:n.6250C>T
NM_000186.3:c.3152C>T , LRG_47t1:c.3152C>T	NP_000177.2:p.Pro1051Leu
XR_001737134.2:n.3338C>T
NM_000186.4:c.3152C>T MANE Select	NP_000177.2:p.Pro1051Leu