Canonical Allele Identifier: CA505123668

Gene: C3

Linked Data

• gnomAD v4: 19-6686157-C-T
• MyVariant Identifiers: chr19:g.6686168C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686157C>T , CM000681.2:g.6686157C>T	GRCh38
NC_000019.9:g.6686168C>T , CM000681.1:g.6686168C>T	GRCh37
NC_000019.8:g.6637168C>T	NCBI36
NG_009557.1:g.39495G>A , LRG_27:g.39495G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2125G>A
ENST00000695652.1:c.3654G>A	ENSP00000512083.1:p.Gln1218=
ENST00000695653.1:c.1686G>A	ENSP00000512084.1:p.Gln562=
ENST00000695654.1:c.2802G>A	ENSP00000512085.1:p.Gln934=
ENST00000695655.1:c.2718G>A	ENSP00000512086.1:n.2718G>A
ENST00000695692.1:n.3141G>A
ENST00000245907.11:c.3777G>A MANE Select	ENSP00000245907.4:p.Gln1259=
ENST00000245907.10:c.3777G>A	ENSP00000245907.4:p.Gln1259=
ENST00000596238.1:n.220G>A
ENST00000601008.1:c.241+589G>A	ENSP00000471384.1:n.241+589G>A
NM_000064.3:c.3777G>A	NP_000055.2:p.Gln1259=
NM_000064.4:c.3777G>A MANE Select	NP_000055.2:p.Gln1259=