Canonical Allele Identifier: CA343987634

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716315T>C (hg19) ; chr1:g.196747185T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747185T>C , CM000663.2:g.196747185T>C	GRCh38
NC_000001.10:g.196716315T>C , CM000663.1:g.196716315T>C	GRCh37
NC_000001.9:g.194982938T>C	NCBI36
NG_007259.1:g.100175T>C , LRG_47:g.100175T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4596T>C
ENST00000695970.1:c.3394T>C	ENSP00000512297.1:p.Tyr1132His
ENST00000695971.1:c.3547T>C	ENSP00000512298.1:p.Tyr1183His
ENST00000695972.1:c.*645T>C	ENSP00000512299.1:n.*645T>C
ENST00000695973.1:c.*1932T>C	ENSP00000512300.1:n.*1932T>C
ENST00000695974.1:c.3391T>C	ENSP00000512301.1:p.Tyr1131His
ENST00000695975.1:c.*1695T>C	ENSP00000512302.1:n.*1695T>C
ENST00000695976.1:c.3379T>C	ENSP00000512303.1:p.Tyr1127His
ENST00000695981.1:c.3568T>C	ENSP00000512306.1:p.Tyr1190His
ENST00000695984.1:c.1576T>C	ENSP00000512309.1:p.Tyr526His
ENST00000695986.1:c.*3219T>C	ENSP00000512311.1:n.*3219T>C
ENST00000695990.1:n.602T>C
ENST00000696026.1:c.*1850T>C	ENSP00000512335.1:n.*1850T>C
ENST00000696027.1:c.3562T>C	ENSP00000512336.1:p.Tyr1188His
ENST00000696028.1:c.3496T>C	ENSP00000512337.1:p.Tyr1166His
ENST00000696029.1:c.3562T>C	ENSP00000512338.1:p.Tyr1188His
ENST00000696031.1:c.*3086T>C	ENSP00000512340.1:n.*3086T>C
ENST00000696032.1:c.3568T>C	ENSP00000512341.1:p.Tyr1190His
ENST00000696033.1:c.1160-32612T>C	ENSP00000512342.1:n.1160-32612T>C
ENST00000367429.9:c.3568T>C MANE Select	ENSP00000356399.4:p.Tyr1190His
ENST00000367429.8:c.3568T>C	ENSP00000356399.4:p.Tyr1190His
ENST00000466229.5:n.6666T>C
NM_000186.3:c.3568T>C , LRG_47t1:c.3568T>C	NP_000177.2:p.Tyr1190His
XR_001737134.2:n.3754T>C
NM_000186.4:c.3568T>C MANE Select	NP_000177.2:p.Tyr1190His