Canonical Allele Identifier: CA1307861

Gene: CFHR5

Linked Data

• dbSNP Id: rs774164109
• ExAC: 1:196965046 A / G
• gnomAD v2: 1-196965046-A-G
• gnomAD v4: 1-196995916-A-G
• MyVariant Identifiers: chr1:g.196965046A>G (hg19) ; chr1:g.196995916A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995916A>G , CM000663.2:g.196995916A>G	GRCh38
NC_000001.10:g.196965046A>G , CM000663.1:g.196965046A>G	GRCh37
NC_000001.9:g.195231669A>G	NCBI36
NG_016365.1:g.23380A>G , LRG_227:g.23380A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.535+17A>G	ENSP00000514393.1:n.535+17A>G
ENST00000699467.1:n.859+17A>G
ENST00000699468.1:c.-24-198A>G	ENSP00000514394.1:n.-24-198A>G
ENST00000256785.5:c.790+17A>G MANE Select	ENSP00000256785.4:n.790+17A>G
ENST00000256785.4:c.790+17A>G	ENSP00000256785.4:n.790+17A>G
NM_030787.3:c.790+17A>G , LRG_227t1:c.790+17A>G	NP_110414.1:n.790+17A>G
XM_011510020.1:c.799+17A>G	XP_011508322.1:n.799+17A>G
XM_011510020.2:c.799+17A>G	XP_011508322.1:n.799+17A>G
NM_030787.4:c.790+17A>G MANE Select	NP_110414.1:n.790+17A>G