Canonical Allele Identifier: CA729697104

Gene: CFH

Linked Data

• dbSNP Id: rs1490148380
• gnomAD v4: 1-196746980-C-T
• MyVariant Identifiers: chr1:g.196716110C>T (hg19) ; chr1:g.196746980C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196746980C>T , CM000663.2:g.196746980C>T	GRCh38
NC_000001.10:g.196716110C>T , CM000663.1:g.196716110C>T	GRCh37
NC_000001.9:g.194982733C>T	NCBI36
NG_007259.1:g.99970C>T , LRG_47:g.99970C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4522-131C>T
ENST00000695970.1:c.3320-131C>T	ENSP00000512297.1:n.3320-131C>T
ENST00000695971.1:c.3473-131C>T	ENSP00000512298.1:n.3473-131C>T
ENST00000695972.1:c.*571-131C>T	ENSP00000512299.1:n.*571-131C>T
ENST00000695973.1:c.*1858-131C>T	ENSP00000512300.1:n.*1858-131C>T
ENST00000695974.1:c.3317-131C>T	ENSP00000512301.1:n.3317-131C>T
ENST00000695975.1:c.*1621-131C>T	ENSP00000512302.1:n.*1621-131C>T
ENST00000695976.1:c.3305-131C>T	ENSP00000512303.1:n.3305-131C>T
ENST00000695981.1:c.3494-131C>T	ENSP00000512306.1:n.3494-131C>T
ENST00000695984.1:c.1502-131C>T	ENSP00000512309.1:n.1502-131C>T
ENST00000695986.1:c.*3145-131C>T	ENSP00000512311.1:n.*3145-131C>T
ENST00000695990.1:n.528-131C>T
ENST00000696026.1:c.*1776-131C>T	ENSP00000512335.1:n.*1776-131C>T
ENST00000696027.1:c.3488-131C>T	ENSP00000512336.1:n.3488-131C>T
ENST00000696028.1:c.3422-131C>T	ENSP00000512337.1:n.3422-131C>T
ENST00000696029.1:c.3488-131C>T	ENSP00000512338.1:n.3488-131C>T
ENST00000696031.1:c.*3012-131C>T	ENSP00000512340.1:n.*3012-131C>T
ENST00000696032.1:c.3494-131C>T	ENSP00000512341.1:n.3494-131C>T
ENST00000696033.1:c.1160-32817C>T	ENSP00000512342.1:n.1160-32817C>T
ENST00000367429.9:c.3494-131C>T MANE Select	ENSP00000356399.4:n.3494-131C>T
ENST00000367429.8:c.3494-131C>T	ENSP00000356399.4:n.3494-131C>T
ENST00000466229.5:n.6592-131C>T
NM_000186.3:c.3494-131C>T , LRG_47t1:c.3494-131C>T	NP_000177.2:n.3494-131C>T
XR_001737134.2:n.3680-131C>T
NM_000186.4:c.3494-131C>T MANE Select	NP_000177.2:n.3494-131C>T