Canonical Allele Identifier: CA466941221

Gene: C5

Linked Data

• gnomAD v4: 9-120962959-T-C
• MyVariant Identifiers: chr9:g.123725237T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1366A>G
ENST00000696279.1:c.4652A>G
ENST00000696280.1:n.4421A>G
ENST00000696281.1:c.4350A>G	ENSP00000512521.1:p.Glu1450=
ENST00000697921.1:n.3210A>G
ENST00000697922.1:c.*4322A>G	ENSP00000513478.1:n.*4322A>G
ENST00000697923.1:n.4777A>G
ENST00000223642.3:c.4332A>G MANE Select	ENSP00000223642.1:p.Glu1444=
ENST00000223642.2:c.4332A>G	ENSP00000223642.1:p.Glu1444=
NM_001735.2:c.4332A>G , LRG_28t1:c.4332A>G	NP_001726.2:p.Glu1444=
XM_011518980.1:c.4347A>G	XP_011517282.1:p.Glu1449=
NM_001317163.1:c.4350A>G	NP_001304092.1:p.Glu1450=
NM_001317163.2:c.4350A>G	NP_001304092.1:p.Glu1450=
NM_001735.3:c.4332A>G MANE Select	NP_001726.2:p.Glu1444=