Canonical Allele Identifier: CA631722518

Gene: C3

Linked Data

• gnomAD v2: 19-6709640-G-GCCC
• gnomAD v3: 19-6709629-G-GCCC
• gnomAD v4: 19-6709629-G-GCCC
• MyVariant Identifiers: chr19:g.6709640_6709641insCCC (hg19) ; chr19:g.6709629_6709630insCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709631_6709633dup , CM000681.2:g.6709631_6709633dup	GRCh38
NC_000019.9:g.6709642_6709644dup , CM000681.1:g.6709642_6709644dup	GRCh37
NC_000019.8:g.6660642_6660644dup	NCBI36
NG_009557.1:g.16020_16022dup , LRG_27:g.16020_16022dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1722+52_1722+54dup	ENSP00000512083.1:n.1722+52_1722+54dup
ENST00000695654.1:c.969+52_969+54dup	ENSP00000512085.1:n.969+52_969+54dup
ENST00000695655.1:c.786+52_786+54dup	ENSP00000512086.1:n.786+52_786+54dup
ENST00000695692.1:n.1209+52_1209+54dup
ENST00000245907.11:c.1845+52_1845+54dup MANE Select	ENSP00000245907.4:n.1845+52_1845+54dup
ENST00000245907.10:c.1845+52_1845+54dup	ENSP00000245907.4:n.1845+52_1845+54dup
NM_000064.3:c.1845+52_1845+54dup	NP_000055.2:n.1845+52_1845+54dup
NM_000064.4:c.1845+52_1845+54dup MANE Select	NP_000055.2:n.1845+52_1845+54dup