Canonical Allele Identifier: CA528534505

Gene: CFHR5

Linked Data

• dbSNP Id: rs1304056719
• gnomAD v2: 1-196964831-G-A
• gnomAD v4: 1-196995701-G-A
• MyVariant Identifiers: chr1:g.196964831G>A (hg19) ; chr1:g.196995701G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995701G>A , CM000663.2:g.196995701G>A	GRCh38
NC_000001.10:g.196964831G>A , CM000663.1:g.196964831G>A	GRCh37
NC_000001.9:g.195231454G>A	NCBI36
NG_016365.1:g.23165G>A , LRG_227:g.23165G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.353-16G>A	ENSP00000514393.1:n.353-16G>A
ENST00000699467.1:n.677-16G>A
ENST00000699468.1:c.-24-413G>A	ENSP00000514394.1:n.-24-413G>A
ENST00000256785.5:c.608-16G>A MANE Select	ENSP00000256785.4:n.608-16G>A
ENST00000256785.4:c.608-16G>A	ENSP00000256785.4:n.608-16G>A
NM_030787.3:c.608-16G>A , LRG_227t1:c.608-16G>A	NP_110414.1:n.608-16G>A
XM_011510020.1:c.617-16G>A	XP_011508322.1:n.617-16G>A
XM_011510020.2:c.617-16G>A	XP_011508322.1:n.617-16G>A
NM_030787.4:c.608-16G>A MANE Select	NP_110414.1:n.608-16G>A