Canonical Allele Identifier: CA344004640

Gene: CFHR5

Linked Data

• dbSNP Id: rs1292458695
• gnomAD v2: 1-196964901-A-C
• gnomAD v4: 1-196995771-A-C
• MyVariant Identifiers: chr1:g.196964901A>C (hg19) ; chr1:g.196995771A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995771A>C , CM000663.2:g.196995771A>C	GRCh38
NC_000001.10:g.196964901A>C , CM000663.1:g.196964901A>C	GRCh37
NC_000001.9:g.195231524A>C	NCBI36
NG_016365.1:g.23235A>C , LRG_227:g.23235A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.407A>C	ENSP00000514393.1:p.Glu136Ala
ENST00000699467.1:n.731A>C
ENST00000699468.1:c.-24-343A>C	ENSP00000514394.1:n.-24-343A>C
ENST00000256785.5:c.662A>C MANE Select	ENSP00000256785.4:p.Glu221Ala
ENST00000256785.4:c.662A>C	ENSP00000256785.4:p.Glu221Ala
NM_030787.3:c.662A>C , LRG_227t1:c.662A>C	NP_110414.1:p.Glu221Ala
XM_011510020.1:c.671A>C	XP_011508322.1:p.Glu224Ala
XM_011510020.2:c.671A>C	XP_011508322.1:p.Glu224Ala
NM_030787.4:c.662A>C MANE Select	NP_110414.1:p.Glu221Ala