Canonical Allele Identifier: CA1307895

Gene: CFHR5

Linked Data

• ClinVar Variation Id: 1593623
• ClinVar RCV Id: RCV002113019 ; RCV002494235
• dbSNP Id: rs754917131
• ExAC: 1:196965207 G / A
• gnomAD v2: 1-196965207-G-A
• gnomAD v3: 1-196996077-G-A
• gnomAD v4: 1-196996077-G-A
• MyVariant Identifiers: chr1:g.196965207G>A (hg19) ; chr1:g.196996077G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196996077G>A , CM000663.2:g.196996077G>A	GRCh38
NC_000001.10:g.196965207G>A , CM000663.1:g.196965207G>A	GRCh37
NC_000001.9:g.195231830G>A	NCBI36
NG_016365.1:g.23541G>A , LRG_227:g.23541G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.591G>A	ENSP00000514393.1:p.Pro197=
ENST00000699467.1:n.915G>A
ENST00000699468.1:c.-24-37G>A	ENSP00000514394.1:n.-24-37G>A
ENST00000256785.5:c.846G>A MANE Select	ENSP00000256785.4:p.Pro282=
ENST00000256785.4:c.846G>A	ENSP00000256785.4:p.Pro282=
NM_030787.3:c.846G>A , LRG_227t1:c.846G>A	NP_110414.1:p.Pro282=
XM_011510020.1:c.855G>A	XP_011508322.1:p.Pro285=
XM_011510020.2:c.855G>A	XP_011508322.1:p.Pro285=
NM_030787.4:c.846G>A MANE Select	NP_110414.1:p.Pro282=