Canonical Allele Identifier: CA374746573

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123725013A>T (hg19) ; chr9:g.120962735A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962735A>T , CM000671.2:g.120962735A>T	GRCh38
NC_000009.11:g.123725013A>T , CM000671.1:g.123725013A>T	GRCh37
NC_000009.10:g.122764834A>T	NCBI36
NG_007364.1:g.92542T>A , LRG_28:g.92542T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1474T>A
ENST00000696279.1:c.4760T>A
ENST00000696280.1:n.4529T>A
ENST00000696281.1:c.4458T>A	ENSP00000512521.1:p.Phe1486Leu
ENST00000697921.1:n.3318T>A
ENST00000697922.1:c.*4430T>A	ENSP00000513478.1:n.*4430T>A
ENST00000697923.1:n.4885T>A
ENST00000223642.3:c.4440T>A MANE Select	ENSP00000223642.1:p.Phe1480Leu
ENST00000223642.2:c.4440T>A	ENSP00000223642.1:p.Phe1480Leu
NM_001735.2:c.4440T>A , LRG_28t1:c.4440T>A	NP_001726.2:p.Phe1480Leu
XM_011518980.1:c.4455T>A	XP_011517282.1:p.Phe1485Leu
NM_001317163.1:c.4458T>A	NP_001304092.1:p.Phe1486Leu
NM_001317163.2:c.4458T>A	NP_001304092.1:p.Phe1486Leu
NM_001735.3:c.4440T>A MANE Select	NP_001726.2:p.Phe1480Leu