Canonical Allele Identifier: CA9128719

Gene: C3

Linked Data

• ClinVar Variation Id: 1646919
• ClinVar RCV Id: RCV002151374 ; RCV002494462
• dbSNP Id: rs747517809
• ExAC: 19:6690622 A / G
• gnomAD v2: 19-6690622-A-G
• gnomAD v3: 19-6690611-A-G
• gnomAD v4: 19-6690611-A-G
• MyVariant Identifiers: chr19:g.6690622A>G (hg19) ; chr19:g.6690611A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6690611A>G , CM000681.2:g.6690611A>G	GRCh38
NC_000019.9:g.6690622A>G , CM000681.1:g.6690622A>G	GRCh37
NC_000019.8:g.6641622A>G	NCBI36
NG_009557.1:g.35041T>C , LRG_27:g.35041T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.1837+18T>C
ENST00000695652.1:c.3366+18T>C	ENSP00000512083.1:n.3366+18T>C
ENST00000695653.1:c.1398+18T>C	ENSP00000512084.1:n.1398+18T>C
ENST00000695654.1:c.2514+2313T>C	ENSP00000512085.1:n.2514+2313T>C
ENST00000695655.1:c.2430+18T>C	ENSP00000512086.1:n.2430+18T>C
ENST00000695692.1:n.2853+18T>C
ENST00000245907.11:c.3489+18T>C MANE Select	ENSP00000245907.4:n.3489+18T>C
ENST00000245907.10:c.3489+18T>C	ENSP00000245907.4:n.3489+18T>C
ENST00000598805.2:n.259+18T>C
ENST00000601008.1:c.84+18T>C	ENSP00000471384.1:n.84+18T>C
NM_000064.3:c.3489+18T>C	NP_000055.2:n.3489+18T>C
NM_000064.4:c.3489+18T>C MANE Select	NP_000055.2:n.3489+18T>C