Canonical Allele Identifier: CA403633865

Gene: C3

Linked Data

• dbSNP Id: rs1568217603
• gnomAD v4: 19-6697689-G-A
• MyVariant Identifiers: chr19:g.6697700G>A (hg19) ; chr19:g.6697689G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697689G>A , CM000681.2:g.6697689G>A	GRCh38
NC_000019.9:g.6697700G>A , CM000681.1:g.6697700G>A	GRCh37
NC_000019.8:g.6648700G>A	NCBI36
NG_009557.1:g.27963C>T , LRG_27:g.27963C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.894C>T
ENST00000695652.1:c.2423C>T	ENSP00000512083.1:p.Ala808Val
ENST00000695653.1:c.455C>T	ENSP00000512084.1:p.Ala152Val
ENST00000695654.1:c.1670C>T	ENSP00000512085.1:p.Ala557Val
ENST00000695655.1:c.1487C>T	ENSP00000512086.1:n.1487C>T
ENST00000695692.1:n.1910C>T
ENST00000245907.11:c.2546C>T MANE Select	ENSP00000245907.4:p.Ala849Val
ENST00000245907.10:c.2546C>T	ENSP00000245907.4:p.Ala849Val
ENST00000594005.1:n.27C>T
ENST00000602053.1:n.594C>T
NM_000064.3:c.2546C>T	NP_000055.2:p.Ala849Val
NM_000064.4:c.2546C>T MANE Select	NP_000055.2:p.Ala849Val