Canonical Allele Identifier: CA1308138

Gene: CFHR5

Linked Data

• ClinVar Variation Id: 294552
• ClinVar RCV Id: RCV000356916 ; RCV003574732
• dbSNP Id: rs74323799
• ExAC: 1:196977744 G / A
• gnomAD v2: 1-196977744-G-A
• gnomAD v3: 1-197008614-G-A
• gnomAD v4: 1-197008614-G-A
• COSMIC: COSM5522367 ; COSM5522368
• MyVariant Identifiers: chr1:g.196977744G>A (hg19) ; chr1:g.197008614G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197008614G>A , CM000663.2:g.197008614G>A	GRCh38
NC_000001.10:g.196977744G>A , CM000663.1:g.196977744G>A	GRCh37
NC_000001.9:g.195244367G>A	NCBI36
NG_016365.1:g.36078G>A , LRG_227:g.36078G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.1386G>A	ENSP00000514393.1:p.Ala462=
ENST00000699467.1:n.1710G>A
ENST00000699468.1:c.735G>A	ENSP00000514394.1:p.Ala245=
ENST00000699469.1:n.1329G>A
ENST00000699470.1:n.743G>A
ENST00000699471.1:n.1063G>A
ENST00000256785.5:c.1641G>A MANE Select	ENSP00000256785.4:p.Ala547=
ENST00000256785.4:c.1641G>A	ENSP00000256785.4:p.Ala547=
NM_030787.3:c.1641G>A , LRG_227t1:c.1641G>A	NP_110414.1:p.Ala547=
XM_011510020.1:c.1650G>A	XP_011508322.1:p.Ala550=
XM_011510020.2:c.1650G>A	XP_011508322.1:p.Ala550=
NM_030787.4:c.1641G>A MANE Select	NP_110414.1:p.Ala547=