Canonical Allele Identifier: CA374746170

Gene: C5

Linked Data

• dbSNP Id: rs2046836003
• gnomAD v4: 9-120962694-G-A
• MyVariant Identifiers: chr9:g.123724972G>A (hg19) ; chr9:g.120962694G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962694G>A , CM000671.2:g.120962694G>A	GRCh38
NC_000009.11:g.123724972G>A , CM000671.1:g.123724972G>A	GRCh37
NC_000009.10:g.122764793G>A	NCBI36
NG_007364.1:g.92583C>T , LRG_28:g.92583C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1515C>T
ENST00000696279.1:c.4801C>T
ENST00000696280.1:n.4570C>T
ENST00000696281.1:c.4499C>T	ENSP00000512521.1:p.Thr1500Ile
ENST00000697921.1:n.3359C>T
ENST00000697922.1:c.*4471C>T	ENSP00000513478.1:n.*4471C>T
ENST00000697923.1:n.4926C>T
ENST00000223642.3:c.4481C>T MANE Select	ENSP00000223642.1:p.Thr1494Ile
ENST00000223642.2:c.4481C>T	ENSP00000223642.1:p.Thr1494Ile
ENST00000480188.1:n.14C>T
NM_001735.2:c.4481C>T , LRG_28t1:c.4481C>T	NP_001726.2:p.Thr1494Ile
XM_011518980.1:c.4496C>T	XP_011517282.1:p.Thr1499Ile
NM_001317163.1:c.4499C>T	NP_001304092.1:p.Thr1500Ile
NM_001317163.2:c.4499C>T	NP_001304092.1:p.Thr1500Ile
NM_001735.3:c.4481C>T MANE Select	NP_001726.2:p.Thr1494Ile