Canonical Allele Identifier: CA304780713

Gene: C3

Linked Data

• dbSNP Id: rs11569512
• gnomAD v2: 19-6690493-G-C
• gnomAD v3: 19-6690482-G-C
• gnomAD v4: 19-6690482-G-C
• MyVariant Identifiers: chr19:g.6690493G>C (hg19) ; chr19:g.6690482G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6690482G>C , CM000681.2:g.6690482G>C	GRCh38
NC_000019.9:g.6690493G>C , CM000681.1:g.6690493G>C	GRCh37
NC_000019.8:g.6641493G>C	NCBI36
NG_009557.1:g.35170C>G , LRG_27:g.35170C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.1837+147C>G
ENST00000695652.1:c.3366+147C>G	ENSP00000512083.1:n.3366+147C>G
ENST00000695653.1:c.1398+147C>G	ENSP00000512084.1:n.1398+147C>G
ENST00000695654.1:c.2514+2442C>G	ENSP00000512085.1:n.2514+2442C>G
ENST00000695655.1:c.2430+147C>G	ENSP00000512086.1:n.2430+147C>G
ENST00000695692.1:n.2853+147C>G
ENST00000245907.11:c.3489+147C>G MANE Select	ENSP00000245907.4:n.3489+147C>G
ENST00000245907.10:c.3489+147C>G	ENSP00000245907.4:n.3489+147C>G
ENST00000598805.2:n.259+147C>G
ENST00000601008.1:c.84+147C>G	ENSP00000471384.1:n.84+147C>G
NM_000064.3:c.3489+147C>G	NP_000055.2:n.3489+147C>G
NM_000064.4:c.3489+147C>G MANE Select	NP_000055.2:n.3489+147C>G