Canonical Allele Identifier: CA9128635

Gene: C3

Linked Data

• ClinVar Variation Id: 1569600
• ClinVar RCV Id: RCV002220799
• dbSNP Id: rs367925592
• ExAC: 19:6686126 C / G
• gnomAD v2: 19-6686126-C-G
• gnomAD v3: 19-6686115-C-G
• gnomAD v4: 19-6686115-C-G
• MyVariant Identifiers: chr19:g.6686126C>G (hg19) ; chr19:g.6686115C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686115C>G , CM000681.2:g.6686115C>G	GRCh38
NC_000019.9:g.6686126C>G , CM000681.1:g.6686126C>G	GRCh37
NC_000019.8:g.6637126C>G	NCBI36
NG_009557.1:g.39537G>C , LRG_27:g.39537G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2158+9G>C
ENST00000695653.1:c.1719+9G>C	ENSP00000512084.1:n.1719+9G>C
ENST00000695654.1:c.2835+9G>C	ENSP00000512085.1:n.2835+9G>C
ENST00000695692.1:n.3183G>C
ENST00000245907.11:c.3810+9G>C MANE Select	ENSP00000245907.4:n.3810+9G>C
ENST00000245907.10:c.3810+9G>C	ENSP00000245907.4:n.3810+9G>C
ENST00000596238.1:n.253+9G>C
ENST00000601008.1:c.241+631G>C	ENSP00000471384.1:n.241+631G>C
NM_000064.3:c.3810+9G>C	NP_000055.2:n.3810+9G>C
NM_000064.4:c.3810+9G>C MANE Select	NP_000055.2:n.3810+9G>C