Canonical Allele Identifier: CA403633164

Gene: C3

Linked Data

• dbSNP Id: rs1292611681
• gnomAD v2: 19-6697501-G-C
• gnomAD v3: 19-6697490-G-C
• gnomAD v4: 19-6697490-G-C
• MyVariant Identifiers: chr19:g.6697501G>C (hg19) ; chr19:g.6697490G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697490G>C , CM000681.2:g.6697490G>C	GRCh38
NC_000019.9:g.6697501G>C , CM000681.1:g.6697501G>C	GRCh37
NC_000019.8:g.6648501G>C	NCBI36
NG_009557.1:g.28162C>G , LRG_27:g.28162C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.998C>G
ENST00000695652.1:c.2527C>G	ENSP00000512083.1:p.Gln843Glu
ENST00000695653.1:c.559C>G	ENSP00000512084.1:p.Gln187Glu
ENST00000695654.1:c.1774C>G	ENSP00000512085.1:p.Gln592Glu
ENST00000695655.1:c.1591C>G	ENSP00000512086.1:n.1591C>G
ENST00000695692.1:n.2014C>G
ENST00000245907.11:c.2650C>G MANE Select	ENSP00000245907.4:p.Gln884Glu
ENST00000245907.10:c.2650C>G	ENSP00000245907.4:p.Gln884Glu
ENST00000594005.1:n.226C>G
NM_000064.3:c.2650C>G	NP_000055.2:p.Gln884Glu
NM_000064.4:c.2650C>G MANE Select	NP_000055.2:p.Gln884Glu