Canonical Allele Identifier: CA422802637

Gene: CFHR5

Linked Data

• dbSNP Id: rs1490139459
• gnomAD v2: 1-196964860-A-G
• gnomAD v3: 1-196995730-A-G
• gnomAD v4: 1-196995730-A-G
• MyVariant Identifiers: chr1:g.196964860A>G (hg19) ; chr1:g.196995730A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995730A>G , CM000663.2:g.196995730A>G	GRCh38
NC_000001.10:g.196964860A>G , CM000663.1:g.196964860A>G	GRCh37
NC_000001.9:g.195231483A>G	NCBI36
NG_016365.1:g.23194A>G , LRG_227:g.23194A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.366A>G	ENSP00000514393.1:p.Ser122=
ENST00000699467.1:n.690A>G
ENST00000699468.1:c.-24-384A>G	ENSP00000514394.1:n.-24-384A>G
ENST00000256785.5:c.621A>G MANE Select	ENSP00000256785.4:p.Ser207=
ENST00000256785.4:c.621A>G	ENSP00000256785.4:p.Ser207=
NM_030787.3:c.621A>G , LRG_227t1:c.621A>G	NP_110414.1:p.Ser207=
XM_011510020.1:c.630A>G	XP_011508322.1:p.Ser210=
XM_011510020.2:c.630A>G	XP_011508322.1:p.Ser210=
NM_030787.4:c.621A>G MANE Select	NP_110414.1:p.Ser207=