Canonical Allele Identifier: CA505123720

Gene: C3

Linked Data

• gnomAD v4: 19-6686244-C-T
• MyVariant Identifiers: chr19:g.6686255C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686244C>T , CM000681.2:g.6686244C>T	GRCh38
NC_000019.9:g.6686255C>T , CM000681.1:g.6686255C>T	GRCh37
NC_000019.8:g.6637255C>T	NCBI36
NG_009557.1:g.39408G>A , LRG_27:g.39408G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2038G>A
ENST00000695652.1:c.3567G>A	ENSP00000512083.1:p.Val1189=
ENST00000695653.1:c.1599G>A	ENSP00000512084.1:p.Val533=
ENST00000695654.1:c.2715G>A	ENSP00000512085.1:p.Val905=
ENST00000695655.1:c.2631G>A	ENSP00000512086.1:n.2631G>A
ENST00000695692.1:n.3054G>A
ENST00000245907.11:c.3690G>A MANE Select	ENSP00000245907.4:p.Val1230=
ENST00000245907.10:c.3690G>A	ENSP00000245907.4:p.Val1230=
ENST00000596238.1:n.133G>A
ENST00000601008.1:c.241+502G>A	ENSP00000471384.1:n.241+502G>A
NM_000064.3:c.3690G>A	NP_000055.2:p.Val1230=
NM_000064.4:c.3690G>A MANE Select	NP_000055.2:p.Val1230=