Canonical Allele Identifier: CA1307815

Gene: CFHR5

Linked Data

• dbSNP Id: rs749471589
• ExAC: 1:196964847 G / C
• gnomAD v2: 1-196964847-G-C
• gnomAD v4: 1-196995717-G-C
• MyVariant Identifiers: chr1:g.196964847G>C (hg19) ; chr1:g.196995717G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995717G>C , CM000663.2:g.196995717G>C	GRCh38
NC_000001.10:g.196964847G>C , CM000663.1:g.196964847G>C	GRCh37
NC_000001.9:g.195231470G>C	NCBI36
NG_016365.1:g.23181G>C , LRG_227:g.23181G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.353G>C	ENSP00000514393.1:p.Gly118Ala
ENST00000699467.1:n.677G>C
ENST00000699468.1:c.-24-397G>C	ENSP00000514394.1:n.-24-397G>C
ENST00000256785.5:c.608G>C MANE Select	ENSP00000256785.4:p.Gly203Ala
ENST00000256785.4:c.608G>C	ENSP00000256785.4:p.Gly203Ala
NM_030787.3:c.608G>C , LRG_227t1:c.608G>C	NP_110414.1:p.Gly203Ala
XM_011510020.1:c.617G>C	XP_011508322.1:p.Gly206Ala
XM_011510020.2:c.617G>C	XP_011508322.1:p.Gly206Ala
NM_030787.4:c.608G>C MANE Select	NP_110414.1:p.Gly203Ala