Canonical Allele Identifier: CA374745897

Gene: C5

Linked Data

• ClinVar Variation Id: 2743117
• ClinVar RCV Id: RCV003558252
• dbSNP Id: rs1564131885
• gnomAD v4: 9-120962669-A-T
• MyVariant Identifiers: chr9:g.123724947A>T (hg19) ; chr9:g.120962669A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962669A>T , CM000671.2:g.120962669A>T	GRCh38
NC_000009.11:g.123724947A>T , CM000671.1:g.123724947A>T	GRCh37
NC_000009.10:g.122764768A>T	NCBI36
NG_007364.1:g.92608T>A , LRG_28:g.92608T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000480188.2:n.1538+2T>A
ENST00000696279.1:c.4824+2T>A
ENST00000696280.1:n.4593+2T>A
ENST00000696281.1:c.4522+2T>A	ENSP00000512521.1:n.4522+2T>A
ENST00000697921.1:n.3382+2T>A
ENST00000697922.1:c.*4494+2T>A	ENSP00000513478.1:n.*4494+2T>A
ENST00000697923.1:n.4949+2T>A
ENST00000223642.3:c.4504+2T>A MANE Select	ENSP00000223642.1:n.4504+2T>A
ENST00000223642.2:c.4504+2T>A	ENSP00000223642.1:n.4504+2T>A
ENST00000480188.1:n.37+2T>A
NM_001735.2:c.4504+2T>A , LRG_28t1:c.4504+2T>A	NP_001726.2:n.4504+2T>A
XM_011518980.1:c.4519+2T>A	XP_011517282.1:n.4519+2T>A
NM_001317163.1:c.4522+2T>A	NP_001304092.1:n.4522+2T>A
NM_001317163.2:c.4522+2T>A	NP_001304092.1:n.4522+2T>A
NM_001735.3:c.4504+2T>A MANE Select	NP_001726.2:n.4504+2T>A