Canonical Allele Identifier: CA505192227

Gene: C3

Linked Data

• gnomAD v4: 19-6697353-C-T
• MyVariant Identifiers: chr19:g.6697364C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697353C>T , CM000681.2:g.6697353C>T	GRCh38
NC_000019.9:g.6697364C>T , CM000681.1:g.6697364C>T	GRCh37
NC_000019.8:g.6648364C>T	NCBI36
NG_009557.1:g.28299G>A , LRG_27:g.28299G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1135G>A
ENST00000695652.1:c.2664G>A	ENSP00000512083.1:p.Leu888=
ENST00000695653.1:c.696G>A	ENSP00000512084.1:p.Leu232=
ENST00000695654.1:c.1911G>A	ENSP00000512085.1:p.Leu637=
ENST00000695655.1:c.1728G>A	ENSP00000512086.1:n.1728G>A
ENST00000695692.1:n.2151G>A
ENST00000245907.11:c.2787G>A MANE Select	ENSP00000245907.4:p.Leu929=
ENST00000245907.10:c.2787G>A	ENSP00000245907.4:p.Leu929=
ENST00000594005.1:n.363G>A
NM_000064.3:c.2787G>A	NP_000055.2:p.Leu929=
NM_000064.4:c.2787G>A MANE Select	NP_000055.2:p.Leu929=