Canonical Allele Identifier: CA1307845
Gene: CFHR5 HGNC NCBI

Linked Data

ClinVar Variation Id: 713772
ClinVar RCV Id: RCV001095945 RCV000885964 RCV003454929 RCV002294397
dbSNP Id: rs41306229
ExAC: 1:196964971 C / T
gnomAD v2: 1-196964971-C-T
gnomAD v3: 1-196995841-C-T
gnomAD v4: 1-196995841-C-T
MyVariant Identifiers: chr1:g.196964971C>T (hg19) chr1:g.196995841C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995841C>T , CM000663.2:g.196995841C>T GRCh38
NC_000001.10:g.196964971C>T , CM000663.1:g.196964971C>T GRCh37
NC_000001.9:g.195231594C>T NCBI36
NG_016365.1:g.23305C>T , LRG_227:g.23305C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.477C>T ENSP00000514393.1:p.Asn159=
ENST00000699467.1:n.801C>T
ENST00000699468.1:c.-24-273C>T ENSP00000514394.1:n.-24-273C>T
ENST00000256785.5:c.732C>T MANE Select ENSP00000256785.4:p.Asn244=
ENST00000256785.4:c.732C>T ENSP00000256785.4:p.Asn244=
NM_030787.3:c.732C>T , LRG_227t1:c.732C>T NP_110414.1:p.Asn244=
XM_011510020.1:c.741C>T XP_011508322.1:p.Asn247=
XM_011510020.2:c.741C>T XP_011508322.1:p.Asn247=
NM_030787.4:c.732C>T MANE Select NP_110414.1:p.Asn244=
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