Canonical Allele Identifier: CA422802774
Gene: CFHR5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.196965019C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995889C>A , CM000663.2:g.196995889C>A GRCh38
NC_000001.10:g.196965019C>A , CM000663.1:g.196965019C>A GRCh37
NC_000001.9:g.195231642C>A NCBI36
NG_016365.1:g.23353C>A , LRG_227:g.23353C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.525C>A ENSP00000514393.1:p.Pro175=
ENST00000699467.1:n.849C>A
ENST00000699468.1:c.-24-225C>A ENSP00000514394.1:n.-24-225C>A
ENST00000256785.5:c.780C>A MANE Select ENSP00000256785.4:p.Pro260=
ENST00000256785.4:c.780C>A ENSP00000256785.4:p.Pro260=
NM_030787.3:c.780C>A , LRG_227t1:c.780C>A NP_110414.1:p.Pro260=
XM_011510020.1:c.789C>A XP_011508322.1:p.Pro263=
XM_011510020.2:c.789C>A XP_011508322.1:p.Pro263=
NM_030787.4:c.780C>A MANE Select NP_110414.1:p.Pro260=
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