Canonical Allele Identifier: CA1305994

Gene: CFH

Linked Data

• dbSNP Id: rs750755559
• ExAC: 1:196716387 T / C
• gnomAD v2: 1-196716387-T-C
• gnomAD v3: 1-196747257-T-C
• gnomAD v4: 1-196747257-T-C
• MyVariant Identifiers: chr1:g.196716387T>C (hg19) ; chr1:g.196747257T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747257T>C , CM000663.2:g.196747257T>C	GRCh38
NC_000001.10:g.196716387T>C , CM000663.1:g.196716387T>C	GRCh37
NC_000001.9:g.194983010T>C	NCBI36
NG_007259.1:g.100247T>C , LRG_47:g.100247T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4668T>C
ENST00000695970.1:c.3466T>C	ENSP00000512297.1:p.Leu1156=
ENST00000695971.1:c.3619T>C	ENSP00000512298.1:p.Leu1207=
ENST00000695972.1:c.*717T>C	ENSP00000512299.1:n.*717T>C
ENST00000695973.1:c.*2004T>C	ENSP00000512300.1:n.*2004T>C
ENST00000695974.1:c.3463T>C	ENSP00000512301.1:p.Leu1155=
ENST00000695975.1:c.*1767T>C	ENSP00000512302.1:n.*1767T>C
ENST00000695976.1:c.3451T>C	ENSP00000512303.1:p.Leu1151=
ENST00000695981.1:c.3580+60T>C	ENSP00000512306.1:n.3580+60T>C
ENST00000695984.1:c.1648T>C	ENSP00000512309.1:p.Leu550=
ENST00000695986.1:c.*3291T>C	ENSP00000512311.1:n.*3291T>C
ENST00000695990.1:n.674T>C
ENST00000696026.1:c.*1922T>C	ENSP00000512335.1:n.*1922T>C
ENST00000696027.1:c.3634T>C	ENSP00000512336.1:p.Leu1212=
ENST00000696028.1:c.3568T>C	ENSP00000512337.1:p.Leu1190=
ENST00000696029.1:c.3634T>C	ENSP00000512338.1:p.Leu1212=
ENST00000696031.1:c.*3158T>C	ENSP00000512340.1:n.*3158T>C
ENST00000696032.1:c.3580+60T>C	ENSP00000512341.1:n.3580+60T>C
ENST00000696033.1:c.1160-32540T>C	ENSP00000512342.1:n.1160-32540T>C
ENST00000367429.9:c.3640T>C MANE Select	ENSP00000356399.4:p.Leu1214=
ENST00000367429.8:c.3640T>C	ENSP00000356399.4:p.Leu1214=
ENST00000466229.5:n.6738T>C
NM_000186.3:c.3640T>C , LRG_47t1:c.3640T>C	NP_000177.2:p.Leu1214=
XR_001737134.2:n.3826T>C
NM_000186.4:c.3640T>C MANE Select	NP_000177.2:p.Leu1214=