Canonical Allele Identifier: CA403633885

Gene: C3

Linked Data

• dbSNP Id: rs1410586834
• gnomAD v2: 19-6697706-A-C
• MyVariant Identifiers: chr19:g.6697706A>C (hg19) ; chr19:g.6697695A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697695A>C , CM000681.2:g.6697695A>C	GRCh38
NC_000019.9:g.6697706A>C , CM000681.1:g.6697706A>C	GRCh37
NC_000019.8:g.6648706A>C	NCBI36
NG_009557.1:g.27957T>G , LRG_27:g.27957T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.888T>G
ENST00000695652.1:c.2417T>G	ENSP00000512083.1:p.Ile806Ser
ENST00000695653.1:c.449T>G	ENSP00000512084.1:p.Ile150Ser
ENST00000695654.1:c.1664T>G	ENSP00000512085.1:p.Ile555Ser
ENST00000695655.1:c.1481T>G	ENSP00000512086.1:n.1481T>G
ENST00000695692.1:n.1904T>G
ENST00000245907.11:c.2540T>G MANE Select	ENSP00000245907.4:p.Ile847Ser
ENST00000245907.10:c.2540T>G	ENSP00000245907.4:p.Ile847Ser
ENST00000594005.1:n.21T>G
ENST00000602053.1:n.588T>G
NM_000064.3:c.2540T>G	NP_000055.2:p.Ile847Ser
NM_000064.4:c.2540T>G MANE Select	NP_000055.2:p.Ile847Ser