Canonical Allele Identifier: CA374746516

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123725006A>T (hg19) ; chr9:g.120962728A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962728A>T , CM000671.2:g.120962728A>T	GRCh38
NC_000009.11:g.123725006A>T , CM000671.1:g.123725006A>T	GRCh37
NC_000009.10:g.122764827A>T	NCBI36
NG_007364.1:g.92549T>A , LRG_28:g.92549T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1481T>A
ENST00000696279.1:c.4767T>A
ENST00000696280.1:n.4536T>A
ENST00000696281.1:c.4465T>A	ENSP00000512521.1:p.Phe1489Ile
ENST00000697921.1:n.3325T>A
ENST00000697922.1:c.*4437T>A	ENSP00000513478.1:n.*4437T>A
ENST00000697923.1:n.4892T>A
ENST00000223642.3:c.4447T>A MANE Select	ENSP00000223642.1:p.Phe1483Ile
ENST00000223642.2:c.4447T>A	ENSP00000223642.1:p.Phe1483Ile
NM_001735.2:c.4447T>A , LRG_28t1:c.4447T>A	NP_001726.2:p.Phe1483Ile
XM_011518980.1:c.4462T>A	XP_011517282.1:p.Phe1488Ile
NM_001317163.1:c.4465T>A	NP_001304092.1:p.Phe1489Ile
NM_001317163.2:c.4465T>A	NP_001304092.1:p.Phe1489Ile
NM_001735.3:c.4447T>A MANE Select	NP_001726.2:p.Phe1483Ile