Canonical Allele Identifier: CA9129020

Gene: C3

Linked Data

• dbSNP Id: rs756561792
• ExAC: 19:6697595 A / AGT
• gnomAD v2: 19-6697595-A-AGT
• gnomAD v3: 19-6697584-A-AGT
• gnomAD v4: 19-6697584-A-AGT
• MyVariant Identifiers: chr19:g.6697595_6697596insGT (hg19) ; chr19:g.6697584_6697585insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697592_6697593dup , CM000681.2:g.6697592_6697593dup	GRCh38
NC_000019.9:g.6697603_6697604dup , CM000681.1:g.6697603_6697604dup	GRCh37
NC_000019.8:g.6648603_6648604dup	NCBI36
NG_009557.1:g.28066_28067dup , LRG_27:g.28066_28067dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.932-30_932-29dup
ENST00000695652.1:c.2461-30_2461-29dup	ENSP00000512083.1:n.2461-30_2461-29dup
ENST00000695653.1:c.493-30_493-29dup	ENSP00000512084.1:n.493-30_493-29dup
ENST00000695654.1:c.1708-30_1708-29dup	ENSP00000512085.1:n.1708-30_1708-29dup
ENST00000695655.1:c.1525-30_1525-29dup	ENSP00000512086.1:n.1525-30_1525-29dup
ENST00000695692.1:n.1948-30_1948-29dup
ENST00000245907.11:c.2584-30_2584-29dup MANE Select	ENSP00000245907.4:n.2584-30_2584-29dup
ENST00000245907.10:c.2584-30_2584-29dup	ENSP00000245907.4:n.2584-30_2584-29dup
ENST00000594005.1:n.130_131dup
NM_000064.3:c.2584-30_2584-29dup	NP_000055.2:n.2584-30_2584-29dup
NM_000064.4:c.2584-30_2584-29dup MANE Select	NP_000055.2:n.2584-30_2584-29dup