Canonical Allele Identifier: CA403634181

Gene: C3

Linked Data

• gnomAD v4: 19-6697786-C-T
• MyVariant Identifiers: chr19:g.6697797C>T (hg19) ; chr19:g.6697786C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697786C>T , CM000681.2:g.6697786C>T	GRCh38
NC_000019.9:g.6697797C>T , CM000681.1:g.6697797C>T	GRCh37
NC_000019.8:g.6648797C>T	NCBI36
NG_009557.1:g.27866G>A , LRG_27:g.27866G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.797G>A
ENST00000695652.1:c.2326G>A	ENSP00000512083.1:p.Val776Met
ENST00000695653.1:c.358G>A	ENSP00000512084.1:p.Val120Met
ENST00000695654.1:c.1573G>A	ENSP00000512085.1:p.Val525Met
ENST00000695655.1:c.1390G>A	ENSP00000512086.1:n.1390G>A
ENST00000695692.1:n.1813G>A
ENST00000245907.11:c.2449G>A MANE Select	ENSP00000245907.4:p.Val817Met
ENST00000245907.10:c.2449G>A	ENSP00000245907.4:p.Val817Met
ENST00000602053.1:n.497G>A
NM_000064.3:c.2449G>A	NP_000055.2:p.Val817Met
NM_000064.4:c.2449G>A MANE Select	NP_000055.2:p.Val817Met