Canonical Allele Identifier: CA1307902
Gene: CFHR5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2060540
ClinVar RCV Id: RCV002947798
dbSNP Id: rs375290756
ExAC: 1:196965240 C / T
gnomAD v2: 1-196965240-C-T
gnomAD v3: 1-196996110-C-T
gnomAD v4: 1-196996110-C-T
MyVariant Identifiers: chr1:g.196965240C>T (hg19) chr1:g.196996110C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196996110C>T , CM000663.2:g.196996110C>T GRCh38
NC_000001.10:g.196965240C>T , CM000663.1:g.196965240C>T GRCh37
NC_000001.9:g.195231863C>T NCBI36
NG_016365.1:g.23574C>T , LRG_227:g.23574C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.624C>T ENSP00000514393.1:p.Val208=
ENST00000699467.1:n.948C>T
ENST00000699468.1:c.-24-4C>T ENSP00000514394.1:n.-24-4C>T
ENST00000256785.5:c.879C>T MANE Select ENSP00000256785.4:p.Val293=
ENST00000256785.4:c.879C>T ENSP00000256785.4:p.Val293=
NM_030787.3:c.879C>T , LRG_227t1:c.879C>T NP_110414.1:p.Val293=
XM_011510020.1:c.888C>T XP_011508322.1:p.Val296=
XM_011510020.2:c.888C>T XP_011508322.1:p.Val296=
NM_030787.4:c.879C>T MANE Select NP_110414.1:p.Val293=
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