Canonical Allele Identifier: CA2587875406

Gene: C3

Linked Data

• gnomAD v4: 19-6697418-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697419dup , CM000681.2:g.6697419dup	GRCh38
NC_000019.9:g.6697430dup , CM000681.1:g.6697430dup	GRCh37
NC_000019.8:g.6648430dup	NCBI36
NG_009557.1:g.28233dup , LRG_27:g.28233dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1069dup
ENST00000695652.1:c.2598dup	ENSP00000512083.1:p.Gln867AlafsTer16
ENST00000695653.1:c.630dup	ENSP00000512084.1:p.Gln211AlafsTer16
ENST00000695654.1:c.1845dup	ENSP00000512085.1:p.Gln616AlafsTer16
ENST00000695655.1:c.1662dup	ENSP00000512086.1:n.1662dup
ENST00000695692.1:n.2085dup
ENST00000245907.11:c.2721dup MANE Select	ENSP00000245907.4:p.Gln908AlafsTer16
ENST00000245907.10:c.2721dup	ENSP00000245907.4:p.Gln908AlafsTer16
ENST00000594005.1:n.297dup
NM_000064.3:c.2721dup	NP_000055.2:p.Gln908AlafsTer16
NM_000064.4:c.2721dup MANE Select	NP_000055.2:p.Gln908AlafsTer16