Canonical Allele Identifier: CA2587880778

Gene: C3

Linked Data

• gnomAD v4: 19-6718361-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6718362dup , CM000681.2:g.6718362dup	GRCh38
NC_000019.9:g.6718373dup , CM000681.1:g.6718373dup	GRCh37
NC_000019.8:g.6669373dup	NCBI36
NG_009557.1:g.7290dup , LRG_27:g.7290dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000594936.2:n.379dup
ENST00000695652.1:c.195dup	ENSP00000512083.1:p.Thr66AspfsTer?
ENST00000695693.1:c.318dup	ENSP00000512104.1:p.Thr107AspfsTer?
ENST00000245907.11:c.318dup MANE Select	ENSP00000245907.4:p.Thr107AspfsTer?
ENST00000245907.10:c.318dup	ENSP00000245907.4:p.Thr107AspfsTer?
ENST00000594936.1:n.379dup
ENST00000600744.1:c.195dup	ENSP00000472044.1:p.Thr66AspfsTer?
NM_000064.3:c.318dup	NP_000055.2:p.Thr107AspfsTer?
NM_000064.4:c.318dup MANE Select	NP_000055.2:p.Thr107AspfsTer?