Canonical Allele Identifier: CA1306293

Gene: CFHR3

Linked Data

• ClinVar Variation Id: 523008
• ClinVar RCV Id: RCV000626208
• dbSNP Id: rs745503234
• ExAC: 1:196762453 G / T
• gnomAD v2: 1-196762453-G-T
• gnomAD v3: 1-196793323-G-T
• gnomAD v4: 1-196793323-G-T
• MyVariant Identifiers: chr1:g.196762453G>T (hg19) ; chr1:g.196793323G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196793323G>T , CM000663.2:g.196793323G>T	GRCh38
NC_000001.10:g.196762453G>T , CM000663.1:g.196762453G>T	GRCh37
NC_000001.9:g.195029076G>T	NCBI36
NG_015993.1:g.23524G>T , LRG_175:g.23524G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696032.1:c.4325G>T	ENSP00000512341.1:p.Cys1442Phe
ENST00000367425.9:c.803G>T MANE Select	ENSP00000356395.5:p.Cys268Phe
ENST00000367425.8:c.803G>T	ENSP00000356395.4:p.Cys268Phe
ENST00000367427.7:c.*304G>T	ENSP00000356397.3:n.*304G>T
ENST00000391985.7:c.620G>T	ENSP00000375845.3:p.Cys207Phe
ENST00000461558.2:n.475G>T
ENST00000617219.1:c.563-1255G>T	ENSP00000481905.1:n.563-1255G>T
NM_001166624.1:c.620G>T	NP_001160096.1:p.Cys207Phe
NM_021023.5:c.803G>T , LRG_175t1:c.803G>T	NP_066303.2:p.Cys268Phe
XR_001736937.1:n.2174G>T
NM_021023.6:c.803G>T MANE Select	NP_066303.2:p.Cys268Phe
NM_001166624.2:c.620G>T	NP_001160096.1:p.Cys207Phe