Canonical Allele Identifier: CA35878379

Gene: CFHR5

Linked Data

• dbSNP Id: rs374714775
• gnomAD v2: 1-196965006-G-A
• gnomAD v3: 1-196995876-G-A
• gnomAD v4: 1-196995876-G-A
• MyVariant Identifiers: chr1:g.196965006G>A (hg19) ; chr1:g.196995876G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995876G>A , CM000663.2:g.196995876G>A	GRCh38
NC_000001.10:g.196965006G>A , CM000663.1:g.196965006G>A	GRCh37
NC_000001.9:g.195231629G>A	NCBI36
NG_016365.1:g.23340G>A , LRG_227:g.23340G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.512G>A	ENSP00000514393.1:p.Trp171Ter
ENST00000699467.1:n.836G>A
ENST00000699468.1:c.-24-238G>A	ENSP00000514394.1:n.-24-238G>A
ENST00000256785.5:c.767G>A MANE Select	ENSP00000256785.4:p.Trp256Ter
ENST00000256785.4:c.767G>A	ENSP00000256785.4:p.Trp256Ter
NM_030787.3:c.767G>A , LRG_227t1:c.767G>A	NP_110414.1:p.Trp256Ter
XM_011510020.1:c.776G>A	XP_011508322.1:p.Trp259Ter
XM_011510020.2:c.776G>A	XP_011508322.1:p.Trp259Ter
NM_030787.4:c.767G>A MANE Select	NP_110414.1:p.Trp256Ter