Canonical Allele Identifier: CA9129624

Gene: C3

Linked Data

• ClinVar Variation Id: 1433256
• ClinVar RCV Id: RCV001944336 ; RCV002507626
• dbSNP Id: rs756370451
• ExAC: 19:6713304 A / G
• gnomAD v2: 19-6713304-A-G
• gnomAD v3: 19-6713293-A-G
• gnomAD v4: 19-6713293-A-G
• MyVariant Identifiers: chr19:g.6713304A>G (hg19) ; chr19:g.6713293A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713293A>G , CM000681.2:g.6713293A>G	GRCh38
NC_000019.9:g.6713304A>G , CM000681.1:g.6713304A>G	GRCh37
NC_000019.8:g.6664304A>G	NCBI36
NG_009557.1:g.12359T>C , LRG_27:g.12359T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.776T>C	ENSP00000512083.1:p.Val259Ala
ENST00000695654.1:c.23T>C	ENSP00000512085.1:p.Val8Ala
ENST00000695692.1:n.223T>C
ENST00000245907.11:c.899T>C MANE Select	ENSP00000245907.4:p.Val300Ala
ENST00000245907.10:c.899T>C	ENSP00000245907.4:p.Val300Ala
ENST00000594270.5:n.23T>C
ENST00000595577.1:n.403T>C
ENST00000597442.5:n.149T>C
NM_000064.3:c.899T>C	NP_000055.2:p.Val300Ala
NM_000064.4:c.899T>C MANE Select	NP_000055.2:p.Val300Ala