Canonical Allele Identifier: CA528534568

Gene: CFHR5

Linked Data

• dbSNP Id: rs1242626142
• gnomAD v2: 1-196964987-CAAT-C
• gnomAD v4: 1-196995857-CAAT-C
• MyVariant Identifiers: chr1:g.196964988_196964990del (hg19) ; chr1:g.196995858_196995860del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995858_196995860del , CM000663.2:g.196995858_196995860del	GRCh38
NC_000001.10:g.196964988_196964990del , CM000663.1:g.196964988_196964990del	GRCh37
NC_000001.9:g.195231611_195231613del	NCBI36
NG_016365.1:g.23322_23324del , LRG_227:g.23322_23324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.494_496del	ENSP00000514393.1:p.Gln165_Cys166delinsArg
ENST00000699467.1:n.818_820del
ENST00000699468.1:c.-24-256_-24-254del	ENSP00000514394.1:n.-24-256_-24-254del
ENST00000256785.5:c.749_751del MANE Select	ENSP00000256785.4:p.Gln250_Cys251delinsArg
ENST00000256785.4:c.749_751del	ENSP00000256785.4:p.Gln250_Cys251delinsArg
NM_030787.3:c.749_751del , LRG_227t1:c.749_751del	NP_110414.1:p.Gln250_Cys251delinsArg
XM_011510020.1:c.758_760del	XP_011508322.1:p.Gln253_Cys254delinsArg
XM_011510020.2:c.758_760del	XP_011508322.1:p.Gln253_Cys254delinsArg
NM_030787.4:c.749_751del MANE Select	NP_110414.1:p.Gln250_Cys251delinsArg