Canonical Allele Identifier: CA403634096

Gene: C3

Linked Data

• dbSNP Id: rs1197777803
• gnomAD v2: 19-6697773-C-T
• gnomAD v4: 19-6697762-C-T
• MyVariant Identifiers: chr19:g.6697773C>T (hg19) ; chr19:g.6697762C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697762C>T , CM000681.2:g.6697762C>T	GRCh38
NC_000019.9:g.6697773C>T , CM000681.1:g.6697773C>T	GRCh37
NC_000019.8:g.6648773C>T	NCBI36
NG_009557.1:g.27890G>A , LRG_27:g.27890G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.821G>A
ENST00000695652.1:c.2350G>A	ENSP00000512083.1:p.Val784Ile
ENST00000695653.1:c.382G>A	ENSP00000512084.1:p.Val128Ile
ENST00000695654.1:c.1597G>A	ENSP00000512085.1:p.Val533Ile
ENST00000695655.1:c.1414G>A	ENSP00000512086.1:n.1414G>A
ENST00000695692.1:n.1837G>A
ENST00000245907.11:c.2473G>A MANE Select	ENSP00000245907.4:p.Val825Ile
ENST00000245907.10:c.2473G>A	ENSP00000245907.4:p.Val825Ile
ENST00000602053.1:n.521G>A
NM_000064.3:c.2473G>A	NP_000055.2:p.Val825Ile
NM_000064.4:c.2473G>A MANE Select	NP_000055.2:p.Val825Ile