Canonical Allele Identifier: CA403634068

Gene: C3

Linked Data

• ClinVar Variation Id: 2828850
• ClinVar RCV Id: RCV003686114
• dbSNP Id: rs1967571311
• gnomAD v3: 19-6697756-G-A
• gnomAD v4: 19-6697756-G-A
• MyVariant Identifiers: chr19:g.6697767G>A (hg19) ; chr19:g.6697756G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697756G>A , CM000681.2:g.6697756G>A	GRCh38
NC_000019.9:g.6697767G>A , CM000681.1:g.6697767G>A	GRCh37
NC_000019.8:g.6648767G>A	NCBI36
NG_009557.1:g.27896C>T , LRG_27:g.27896C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.827C>T
ENST00000695652.1:c.2356C>T	ENSP00000512083.1:p.Gln786Ter
ENST00000695653.1:c.388C>T	ENSP00000512084.1:p.Gln130Ter
ENST00000695654.1:c.1603C>T	ENSP00000512085.1:p.Gln535Ter
ENST00000695655.1:c.1420C>T	ENSP00000512086.1:n.1420C>T
ENST00000695692.1:n.1843C>T
ENST00000245907.11:c.2479C>T MANE Select	ENSP00000245907.4:p.Gln827Ter
ENST00000245907.10:c.2479C>T	ENSP00000245907.4:p.Gln827Ter
ENST00000602053.1:n.527C>T
NM_000064.3:c.2479C>T	NP_000055.2:p.Gln827Ter
NM_000064.4:c.2479C>T MANE Select	NP_000055.2:p.Gln827Ter