Canonical Allele Identifier: CA9129774

Gene: C3

Linked Data

• ClinVar Variation Id: 330339
• ClinVar RCV Id: RCV000294782 ; RCV000345078 ; RCV000386072 ; RCV000953080 ; RCV001820997 ; RCV002294288
• dbSNP Id: rs150007726
• ExAC: 19:6714374 C / T
• gnomAD v2: 19-6714374-C-T
• gnomAD v3: 19-6714363-C-T
• gnomAD v4: 19-6714363-C-T
• MyVariant Identifiers: chr19:g.6714374C>T (hg19) ; chr19:g.6714363C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6714363C>T , CM000681.2:g.6714363C>T	GRCh38
NC_000019.9:g.6714374C>T , CM000681.1:g.6714374C>T	GRCh37
NC_000019.8:g.6665374C>T	NCBI36
NG_009557.1:g.11289G>A , LRG_27:g.11289G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.465G>A	ENSP00000512083.1:p.Pro155=
ENST00000245907.11:c.588G>A MANE Select	ENSP00000245907.4:p.Pro196=
ENST00000245907.10:c.588G>A	ENSP00000245907.4:p.Pro196=
NM_000064.3:c.588G>A	NP_000055.2:p.Pro196=
NM_000064.4:c.588G>A MANE Select	NP_000055.2:p.Pro196=