Canonical Allele Identifier: CA304775828

Gene: C3

Linked Data

• ClinVar Variation Id: 1652179
• ClinVar RCV Id: RCV002154439
• dbSNP Id: rs191841138
• gnomAD v3: 19-6686241-C-T
• gnomAD v4: 19-6686241-C-T
• MyVariant Identifiers: chr19:g.6686252C>T (hg19) ; chr19:g.6686241C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686241C>T , CM000681.2:g.6686241C>T	GRCh38
NC_000019.9:g.6686252C>T , CM000681.1:g.6686252C>T	GRCh37
NC_000019.8:g.6637252C>T	NCBI36
NG_009557.1:g.39411G>A , LRG_27:g.39411G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2041G>A
ENST00000695652.1:c.3570G>A	ENSP00000512083.1:p.Glu1190=
ENST00000695653.1:c.1602G>A	ENSP00000512084.1:p.Glu534=
ENST00000695654.1:c.2718G>A	ENSP00000512085.1:p.Glu906=
ENST00000695655.1:c.2634G>A	ENSP00000512086.1:n.2634G>A
ENST00000695692.1:n.3057G>A
ENST00000245907.11:c.3693G>A MANE Select	ENSP00000245907.4:p.Glu1231=
ENST00000245907.10:c.3693G>A	ENSP00000245907.4:p.Glu1231=
ENST00000596238.1:n.136G>A
ENST00000601008.1:c.241+505G>A	ENSP00000471384.1:n.241+505G>A
NM_000064.3:c.3693G>A	NP_000055.2:p.Glu1231=
NM_000064.4:c.3693G>A MANE Select	NP_000055.2:p.Glu1231=