Canonical Allele Identifier: CA528534576

Gene: CFHR5

Linked Data

• dbSNP Id: rs1176731077
• gnomAD v2: 1-196965065-T-TAA
• MyVariant Identifiers: chr1:g.196965065_196965066insAA (hg19) ; chr1:g.196995935_196995936insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995936_196995937insAA , CM000663.2:g.196995936_196995937insAA	GRCh38
NC_000001.10:g.196965066_196965067insAA , CM000663.1:g.196965066_196965067insAA	GRCh37
NC_000001.9:g.195231689_195231690insAA	NCBI36
NG_016365.1:g.23400_23401insAA , LRG_227:g.23400_23401insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.535+37_535+38insAA	ENSP00000514393.1:n.535+37_535+38insAA
ENST00000699467.1:n.859+37_859+38insAA
ENST00000699468.1:c.-24-178_-24-177insAA	ENSP00000514394.1:n.-24-178_-24-177insAA
ENST00000256785.5:c.790+37_790+38insAA MANE Select	ENSP00000256785.4:n.790+37_790+38insAA
ENST00000256785.4:c.790+37_790+38insAA	ENSP00000256785.4:n.790+37_790+38insAA
NM_030787.3:c.790+37_790+38insAA , LRG_227t1:c.790+37_790+38insAA	NP_110414.1:n.790+37_790+38insAA
XM_011510020.1:c.799+37_799+38insAA	XP_011508322.1:n.799+37_799+38insAA
XM_011510020.2:c.799+37_799+38insAA	XP_011508322.1:n.799+37_799+38insAA
NM_030787.4:c.790+37_790+38insAA MANE Select	NP_110414.1:n.790+37_790+38insAA