Canonical Allele Identifier: CA403642085

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6713220G>T (hg19) ; chr19:g.6713209G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713209G>T , CM000681.2:g.6713209G>T	GRCh38
NC_000019.9:g.6713220G>T , CM000681.1:g.6713220G>T	GRCh37
NC_000019.8:g.6664220G>T	NCBI36
NG_009557.1:g.12443C>A , LRG_27:g.12443C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.860C>A	ENSP00000512083.1:p.Ala287Asp
ENST00000695654.1:c.107C>A	ENSP00000512085.1:p.Ala36Asp
ENST00000695692.1:n.307C>A
ENST00000245907.11:c.983C>A MANE Select	ENSP00000245907.4:p.Ala328Asp
ENST00000245907.10:c.983C>A	ENSP00000245907.4:p.Ala328Asp
ENST00000594270.5:n.107C>A
ENST00000595577.1:n.487C>A
ENST00000597442.5:n.233C>A
NM_000064.3:c.983C>A	NP_000055.2:p.Ala328Asp
NM_000064.4:c.983C>A MANE Select	NP_000055.2:p.Ala328Asp