Canonical Allele Identifier: CA304780704

Gene: C3

Linked Data

• ClinVar Variation Id: 1237843
• ClinVar RCV Id: RCV001637391
• dbSNP Id: rs11569513
• gnomAD v2: 19-6690460-C-G
• gnomAD v3: 19-6690449-C-G
• gnomAD v4: 19-6690449-C-G
• MyVariant Identifiers: chr19:g.6690460C>G (hg19) ; chr19:g.6690449C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6690449C>G , CM000681.2:g.6690449C>G	GRCh38
NC_000019.9:g.6690460C>G , CM000681.1:g.6690460C>G	GRCh37
NC_000019.8:g.6641460C>G	NCBI36
NG_009557.1:g.35203G>C , LRG_27:g.35203G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1837+180G>C
ENST00000695652.1:c.3366+180G>C	ENSP00000512083.1:n.3366+180G>C
ENST00000695653.1:c.1398+180G>C	ENSP00000512084.1:n.1398+180G>C
ENST00000695654.1:c.2514+2475G>C	ENSP00000512085.1:n.2514+2475G>C
ENST00000695655.1:c.2430+180G>C	ENSP00000512086.1:n.2430+180G>C
ENST00000695692.1:n.2853+180G>C
ENST00000245907.11:c.3489+180G>C MANE Select	ENSP00000245907.4:n.3489+180G>C
ENST00000245907.10:c.3489+180G>C	ENSP00000245907.4:n.3489+180G>C
ENST00000598805.2:n.259+180G>C
ENST00000601008.1:c.84+180G>C	ENSP00000471384.1:n.84+180G>C
NM_000064.3:c.3489+180G>C	NP_000055.2:n.3489+180G>C
NM_000064.4:c.3489+180G>C MANE Select	NP_000055.2:n.3489+180G>C