Canonical Allele Identifier: CA1307819

Gene: CFHR5

Linked Data

• dbSNP Id: rs770833814
• ExAC: 1:196964862 G / A
• gnomAD v2: 1-196964862-G-A
• gnomAD v4: 1-196995732-G-A
• MyVariant Identifiers: chr1:g.196964862G>A (hg19) ; chr1:g.196995732G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995732G>A , CM000663.2:g.196995732G>A	GRCh38
NC_000001.10:g.196964862G>A , CM000663.1:g.196964862G>A	GRCh37
NC_000001.9:g.195231485G>A	NCBI36
NG_016365.1:g.23196G>A , LRG_227:g.23196G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.368G>A	ENSP00000514393.1:p.Cys123Tyr
ENST00000699467.1:n.692G>A
ENST00000699468.1:c.-24-382G>A	ENSP00000514394.1:n.-24-382G>A
ENST00000256785.5:c.623G>A MANE Select	ENSP00000256785.4:p.Cys208Tyr
ENST00000256785.4:c.623G>A	ENSP00000256785.4:p.Cys208Tyr
NM_030787.3:c.623G>A , LRG_227t1:c.623G>A	NP_110414.1:p.Cys208Tyr
XM_011510020.1:c.632G>A	XP_011508322.1:p.Cys211Tyr
XM_011510020.2:c.632G>A	XP_011508322.1:p.Cys211Tyr
NM_030787.4:c.623G>A MANE Select	NP_110414.1:p.Cys208Tyr