Canonical Allele Identifier: CA403634030

Gene: C3

Linked Data

• dbSNP Id: rs1967571173
• MyVariant Identifiers: chr19:g.6697758A>C (hg19) ; chr19:g.6697747A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697747A>C , CM000681.2:g.6697747A>C	GRCh38
NC_000019.9:g.6697758A>C , CM000681.1:g.6697758A>C	GRCh37
NC_000019.8:g.6648758A>C	NCBI36
NG_009557.1:g.27905T>G , LRG_27:g.27905T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.836T>G
ENST00000695652.1:c.2365T>G	ENSP00000512083.1:p.Phe789Val
ENST00000695653.1:c.397T>G	ENSP00000512084.1:p.Phe133Val
ENST00000695654.1:c.1612T>G	ENSP00000512085.1:p.Phe538Val
ENST00000695655.1:c.1429T>G	ENSP00000512086.1:n.1429T>G
ENST00000695692.1:n.1852T>G
ENST00000245907.11:c.2488T>G MANE Select	ENSP00000245907.4:p.Phe830Val
ENST00000245907.10:c.2488T>G	ENSP00000245907.4:p.Phe830Val
ENST00000602053.1:n.536T>G
NM_000064.3:c.2488T>G	NP_000055.2:p.Phe830Val
NM_000064.4:c.2488T>G MANE Select	NP_000055.2:p.Phe830Val