Canonical Allele Identifier: CA1307893
Gene: CFHR5 HGNC NCBI

Linked Data

ClinVar Variation Id: 732917
ClinVar RCV Id: RCV000908124
dbSNP Id: rs143240067
ExAC: 1:196965196 T / A
gnomAD v2: 1-196965196-T-A
gnomAD v3: 1-196996066-T-A
gnomAD v4: 1-196996066-T-A
MyVariant Identifiers: chr1:g.196965196T>A (hg19) chr1:g.196996066T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196996066T>A , CM000663.2:g.196996066T>A GRCh38
NC_000001.10:g.196965196T>A , CM000663.1:g.196965196T>A GRCh37
NC_000001.9:g.195231819T>A NCBI36
NG_016365.1:g.23530T>A , LRG_227:g.23530T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.580T>A ENSP00000514393.1:p.Tyr194Asn
ENST00000699467.1:n.904T>A
ENST00000699468.1:c.-24-48T>A ENSP00000514394.1:n.-24-48T>A
ENST00000256785.5:c.835T>A MANE Select ENSP00000256785.4:p.Tyr279Asn
ENST00000256785.4:c.835T>A ENSP00000256785.4:p.Tyr279Asn
NM_030787.3:c.835T>A , LRG_227t1:c.835T>A NP_110414.1:p.Tyr279Asn
XM_011510020.1:c.844T>A XP_011508322.1:p.Tyr282Asn
XM_011510020.2:c.844T>A XP_011508322.1:p.Tyr282Asn
NM_030787.4:c.835T>A MANE Select NP_110414.1:p.Tyr279Asn
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