Canonical Allele Identifier: CA403612430

Gene: C3

Linked Data

• dbSNP Id: rs751135751
• gnomAD v2: 19-6679218-C-G
• gnomAD v4: 19-6679207-C-G
• MyVariant Identifiers: chr19:g.6679218C>G (hg19) ; chr19:g.6679207C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679207C>G , CM000681.2:g.6679207C>G	GRCh38
NC_000019.9:g.6679218C>G , CM000681.1:g.6679218C>G	GRCh37
NC_000019.8:g.6630218C>G	NCBI36
NG_009557.1:g.46445G>C , LRG_27:g.46445G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2896G>C
ENST00000695653.1:c.2457G>C	ENSP00000512084.1:p.Glu819Asp
ENST00000695654.1:c.3573G>C	ENSP00000512085.1:p.Glu1191Asp
ENST00000695689.1:c.519G>C	ENSP00000512101.1:n.519G>C
ENST00000695690.1:n.1613G>C
ENST00000695691.1:n.1409G>C
ENST00000245907.11:c.4548G>C MANE Select	ENSP00000245907.4:p.Glu1516Asp
ENST00000245907.10:c.4548G>C	ENSP00000245907.4:p.Glu1516Asp
ENST00000599668.1:n.168G>C
ENST00000599899.5:n.1507G>C
ENST00000601008.1:c.242-1249G>C	ENSP00000471384.1:n.242-1249G>C
NM_000064.3:c.4548G>C	NP_000055.2:p.Glu1516Asp
NM_000064.4:c.4548G>C MANE Select	NP_000055.2:p.Glu1516Asp