Canonical Allele Identifier: CA374747868

Gene: C5

Linked Data

• dbSNP Id: rs2046838480
• MyVariant Identifiers: chr9:g.123725237T>A (hg19) ; chr9:g.120962959T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962959T>A , CM000671.2:g.120962959T>A	GRCh38
NC_000009.11:g.123725237T>A , CM000671.1:g.123725237T>A	GRCh37
NC_000009.10:g.122765058T>A	NCBI36
NG_007364.1:g.92318A>T , LRG_28:g.92318A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1366A>T
ENST00000696279.1:c.4652A>T
ENST00000696280.1:n.4421A>T
ENST00000696281.1:c.4350A>T	ENSP00000512521.1:p.Glu1450Asp
ENST00000697921.1:n.3210A>T
ENST00000697922.1:c.*4322A>T	ENSP00000513478.1:n.*4322A>T
ENST00000697923.1:n.4777A>T
ENST00000223642.3:c.4332A>T MANE Select	ENSP00000223642.1:p.Glu1444Asp
ENST00000223642.2:c.4332A>T	ENSP00000223642.1:p.Glu1444Asp
NM_001735.2:c.4332A>T , LRG_28t1:c.4332A>T	NP_001726.2:p.Glu1444Asp
XM_011518980.1:c.4347A>T	XP_011517282.1:p.Glu1449Asp
NM_001317163.1:c.4350A>T	NP_001304092.1:p.Glu1450Asp
NM_001317163.2:c.4350A>T	NP_001304092.1:p.Glu1450Asp
NM_001735.3:c.4332A>T MANE Select	NP_001726.2:p.Glu1444Asp