Canonical Allele Identifier: CA884140016

Gene: C3

Linked Data

• dbSNP Id: rs1356743438
• gnomAD v3: 19-6697299-G-GC
• gnomAD v4: 19-6697299-G-GC
• MyVariant Identifiers: chr19:g.6697310_6697311insC (hg19) ; chr19:g.6697299_6697300insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697302dup , CM000681.2:g.6697302dup	GRCh38
NC_000019.9:g.6697313dup , CM000681.1:g.6697313dup	GRCh37
NC_000019.8:g.6648313dup	NCBI36
NG_009557.1:g.28352dup , LRG_27:g.28352dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1144+44dup
ENST00000695652.1:c.2673+44dup	ENSP00000512083.1:n.2673+44dup
ENST00000695653.1:c.705+44dup	ENSP00000512084.1:n.705+44dup
ENST00000695654.1:c.1920+44dup	ENSP00000512085.1:n.1920+44dup
ENST00000695655.1:c.1737+44dup	ENSP00000512086.1:n.1737+44dup
ENST00000695692.1:n.2160+44dup
ENST00000245907.11:c.2796+44dup MANE Select	ENSP00000245907.4:n.2796+44dup
ENST00000245907.10:c.2796+44dup	ENSP00000245907.4:n.2796+44dup
ENST00000594005.1:n.372+44dup
NM_000064.3:c.2796+44dup	NP_000055.2:n.2796+44dup
NM_000064.4:c.2796+44dup MANE Select	NP_000055.2:n.2796+44dup