Canonical Allele Identifier: CA403642216

Gene: C3

Linked Data

• dbSNP Id: rs1328509384
• gnomAD v2: 19-6713278-C-T
• gnomAD v4: 19-6713267-C-T
• MyVariant Identifiers: chr19:g.6713278C>T (hg19) ; chr19:g.6713267C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713267C>T , CM000681.2:g.6713267C>T	GRCh38
NC_000019.9:g.6713278C>T , CM000681.1:g.6713278C>T	GRCh37
NC_000019.8:g.6664278C>T	NCBI36
NG_009557.1:g.12385G>A , LRG_27:g.12385G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.802G>A	ENSP00000512083.1:p.Asp268Asn
ENST00000695654.1:c.49G>A	ENSP00000512085.1:p.Asp17Asn
ENST00000695692.1:n.249G>A
ENST00000245907.11:c.925G>A MANE Select	ENSP00000245907.4:p.Asp309Asn
ENST00000245907.10:c.925G>A	ENSP00000245907.4:p.Asp309Asn
ENST00000594270.5:n.49G>A
ENST00000595577.1:n.429G>A
ENST00000597442.5:n.175G>A
NM_000064.3:c.925G>A	NP_000055.2:p.Asp309Asn
NM_000064.4:c.925G>A MANE Select	NP_000055.2:p.Asp309Asn