Canonical Allele Identifier: CA1307697

Gene: CFHR5

Linked Data

• ClinVar Variation Id: 294536
• ClinVar RCV Id: RCV000354650 ; RCV002059409 ; RCV002294242 ; RCV003454859
• dbSNP Id: rs140691305
• ExAC: 1:196953166 T / C
• gnomAD v2: 1-196953166-T-C
• gnomAD v3: 1-196984036-T-C
• gnomAD v4: 1-196984036-T-C
• MyVariant Identifiers: chr1:g.196953166T>C (hg19) ; chr1:g.196984036T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196984036T>C , CM000663.2:g.196984036T>C	GRCh38
NC_000001.10:g.196953166T>C , CM000663.1:g.196953166T>C	GRCh37
NC_000001.9:g.195219789T>C	NCBI36
NG_016365.1:g.11500T>C , LRG_227:g.11500T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.74T>C	ENSP00000514393.1:p.Val25Ala
ENST00000699467.1:n.398T>C
ENST00000699468.1:c.-25+6356T>C	ENSP00000514394.1:n.-25+6356T>C
ENST00000256785.5:c.329T>C MANE Select	ENSP00000256785.4:p.Val110Ala
ENST00000256785.4:c.329T>C	ENSP00000256785.4:p.Val110Ala
NM_030787.3:c.329T>C , LRG_227t1:c.329T>C	NP_110414.1:p.Val110Ala
XM_011510020.1:c.338T>C	XP_011508322.1:p.Val113Ala
XM_011510020.2:c.338T>C	XP_011508322.1:p.Val113Ala
NM_030787.4:c.329T>C MANE Select	NP_110414.1:p.Val110Ala