Canonical Allele Identifier: CA422802787
Gene: CFHR5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.196965028T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995898T>A , CM000663.2:g.196995898T>A GRCh38
NC_000001.10:g.196965028T>A , CM000663.1:g.196965028T>A GRCh37
NC_000001.9:g.195231651T>A NCBI36
NG_016365.1:g.23362T>A , LRG_227:g.23362T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.534T>A ENSP00000514393.1:p.Val178=
ENST00000699467.1:n.858T>A
ENST00000699468.1:c.-24-216T>A ENSP00000514394.1:n.-24-216T>A
ENST00000256785.5:c.789T>A MANE Select ENSP00000256785.4:p.Val263=
ENST00000256785.4:c.789T>A ENSP00000256785.4:p.Val263=
NM_030787.3:c.789T>A , LRG_227t1:c.789T>A NP_110414.1:p.Val263=
XM_011510020.1:c.798T>A XP_011508322.1:p.Val266=
XM_011510020.2:c.798T>A XP_011508322.1:p.Val266=
NM_030787.4:c.789T>A MANE Select NP_110414.1:p.Val263=