Canonical Allele Identifier: CA422802756
Gene: CFHR5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.196964956T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995826T>A , CM000663.2:g.196995826T>A GRCh38
NC_000001.10:g.196964956T>A , CM000663.1:g.196964956T>A GRCh37
NC_000001.9:g.195231579T>A NCBI36
NG_016365.1:g.23290T>A , LRG_227:g.23290T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.462T>A ENSP00000514393.1:p.Pro154=
ENST00000699467.1:n.786T>A
ENST00000699468.1:c.-24-288T>A ENSP00000514394.1:n.-24-288T>A
ENST00000256785.5:c.717T>A MANE Select ENSP00000256785.4:p.Pro239=
ENST00000256785.4:c.717T>A ENSP00000256785.4:p.Pro239=
NM_030787.3:c.717T>A , LRG_227t1:c.717T>A NP_110414.1:p.Pro239=
XM_011510020.1:c.726T>A XP_011508322.1:p.Pro242=
XM_011510020.2:c.726T>A XP_011508322.1:p.Pro242=
NM_030787.4:c.717T>A MANE Select NP_110414.1:p.Pro239=