Canonical Allele Identifier: CA5217195

Gene: C5

Linked Data

• dbSNP Id: rs777014012
• ExAC: 9:123725241 A / T
• gnomAD v2: 9-123725241-A-T
• gnomAD v4: 9-120962963-A-T
• MyVariant Identifiers: chr9:g.123725241A>T (hg19) ; chr9:g.120962963A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962963A>T , CM000671.2:g.120962963A>T	GRCh38
NC_000009.11:g.123725241A>T , CM000671.1:g.123725241A>T	GRCh37
NC_000009.10:g.122765062A>T	NCBI36
NG_007364.1:g.92314T>A , LRG_28:g.92314T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1362T>A
ENST00000696279.1:c.4648T>A
ENST00000696280.1:n.4417T>A
ENST00000696281.1:c.4346T>A	ENSP00000512521.1:p.Val1449Glu
ENST00000697921.1:n.3206T>A
ENST00000697922.1:c.*4318T>A	ENSP00000513478.1:n.*4318T>A
ENST00000697923.1:n.4773T>A
ENST00000223642.3:c.4328T>A MANE Select	ENSP00000223642.1:p.Val1443Glu
ENST00000223642.2:c.4328T>A	ENSP00000223642.1:p.Val1443Glu
NM_001735.2:c.4328T>A , LRG_28t1:c.4328T>A	NP_001726.2:p.Val1443Glu
XM_011518980.1:c.4343T>A	XP_011517282.1:p.Val1448Glu
NM_001317163.1:c.4346T>A	NP_001304092.1:p.Val1449Glu
NM_001317163.2:c.4346T>A	NP_001304092.1:p.Val1449Glu
NM_001735.3:c.4328T>A MANE Select	NP_001726.2:p.Val1443Glu