Canonical Allele Identifier: CA9129362

Gene: C3

Linked Data

• dbSNP Id: rs774581541
• ExAC: 19:6709873 G / GC
• gnomAD v2: 19-6709873-G-GC
• gnomAD v4: 19-6709862-G-GC
• MyVariant Identifiers: chr19:g.6709873_6709874insC (hg19) ; chr19:g.6709862_6709863insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709864dup , CM000681.2:g.6709864dup	GRCh38
NC_000019.9:g.6709875dup , CM000681.1:g.6709875dup	GRCh37
NC_000019.8:g.6660875dup	NCBI36
NG_009557.1:g.15789dup , LRG_27:g.15789dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1564-21dup	ENSP00000512083.1:n.1564-21dup
ENST00000695654.1:c.811-21dup	ENSP00000512085.1:n.811-21dup
ENST00000695655.1:c.607dup	ENSP00000512086.1:n.607dup
ENST00000695692.1:n.1051-21dup
ENST00000245907.11:c.1687-21dup MANE Select	ENSP00000245907.4:n.1687-21dup
ENST00000245907.10:c.1687-21dup	ENSP00000245907.4:n.1687-21dup
ENST00000600763.1:n.320-21dup
NM_000064.3:c.1687-21dup	NP_000055.2:n.1687-21dup
NM_000064.4:c.1687-21dup MANE Select	NP_000055.2:n.1687-21dup