Canonical Allele Identifier: CA1307906

Gene: CFHR5

Linked Data

• dbSNP Id: rs763012335
• ExAC: 1:196965245 T / A
• gnomAD v2: 1-196965245-T-A
• gnomAD v4: 1-196996115-T-A
• MyVariant Identifiers: chr1:g.196965245T>A (hg19) ; chr1:g.196996115T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196996115T>A , CM000663.2:g.196996115T>A	GRCh38
NC_000001.10:g.196965245T>A , CM000663.1:g.196965245T>A	GRCh37
NC_000001.9:g.195231868T>A	NCBI36
NG_016365.1:g.23579T>A , LRG_227:g.23579T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.629T>A	ENSP00000514393.1:p.Val210Glu
ENST00000699467.1:n.953T>A
ENST00000699468.1:c.-23T>A	ENSP00000514394.1:n.-23T>A
ENST00000256785.5:c.884T>A MANE Select	ENSP00000256785.4:p.Val295Glu
ENST00000256785.4:c.884T>A	ENSP00000256785.4:p.Val295Glu
NM_030787.3:c.884T>A , LRG_227t1:c.884T>A	NP_110414.1:p.Val295Glu
XM_011510020.1:c.893T>A	XP_011508322.1:p.Val298Glu
XM_011510020.2:c.893T>A	XP_011508322.1:p.Val298Glu
NM_030787.4:c.884T>A MANE Select	NP_110414.1:p.Val295Glu