Canonical Allele Identifier: CA403633911

Gene: C3

Linked Data

• dbSNP Id: rs1436064879
• gnomAD v3: 19-6697701-A-G
• gnomAD v4: 19-6697701-A-G
• MyVariant Identifiers: chr19:g.6697712A>G (hg19) ; chr19:g.6697701A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697701A>G , CM000681.2:g.6697701A>G	GRCh38
NC_000019.9:g.6697712A>G , CM000681.1:g.6697712A>G	GRCh37
NC_000019.8:g.6648712A>G	NCBI36
NG_009557.1:g.27951T>C , LRG_27:g.27951T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.882T>C
ENST00000695652.1:c.2411T>C	ENSP00000512083.1:p.Val804Ala
ENST00000695653.1:c.443T>C	ENSP00000512084.1:p.Val148Ala
ENST00000695654.1:c.1658T>C	ENSP00000512085.1:p.Val553Ala
ENST00000695655.1:c.1475T>C	ENSP00000512086.1:n.1475T>C
ENST00000695692.1:n.1898T>C
ENST00000245907.11:c.2534T>C MANE Select	ENSP00000245907.4:p.Val845Ala
ENST00000245907.10:c.2534T>C	ENSP00000245907.4:p.Val845Ala
ENST00000594005.1:n.15T>C
ENST00000602053.1:n.582T>C
NM_000064.3:c.2534T>C	NP_000055.2:p.Val845Ala
NM_000064.4:c.2534T>C MANE Select	NP_000055.2:p.Val845Ala