Canonical Allele Identifier: CA631722261

Gene: C3

Linked Data

• ClinVar Variation Id: 992385
• ClinVar RCV Id: RCV001280826 ; RCV003558792
• dbSNP Id: rs1568212112
• gnomAD v2: 19-6686206-CAA-C
• gnomAD v4: 19-6686195-CAA-C
• MyVariant Identifiers: chr19:g.6686207_6686208del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686197_6686198del , CM000681.2:g.6686197_6686198del	GRCh38
NC_000019.9:g.6686208_6686209del , CM000681.1:g.6686208_6686209del	GRCh37
NC_000019.8:g.6637208_6637209del	NCBI36
NG_009557.1:g.39455_39456del , LRG_27:g.39455_39456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2085_2086del
ENST00000695652.1:c.3614_3615del	ENSP00000512083.1:p.Phe1205Ter
ENST00000695653.1:c.1646_1647del	ENSP00000512084.1:p.Phe549Ter
ENST00000695654.1:c.2762_2763del	ENSP00000512085.1:p.Phe921Ter
ENST00000695655.1:c.2678_2679del	ENSP00000512086.1:n.2678_2679del
ENST00000695692.1:n.3101_3102del
ENST00000245907.11:c.3737_3738del MANE Select	ENSP00000245907.4:p.Phe1246Ter
ENST00000245907.10:c.3737_3738del	ENSP00000245907.4:p.Phe1246Ter
ENST00000596238.1:n.180_181del
ENST00000601008.1:c.241+549_241+550del	ENSP00000471384.1:n.241+549_241+550del
NM_000064.3:c.3737_3738del	NP_000055.2:p.Phe1246Ter
NM_000064.4:c.3737_3738del MANE Select	NP_000055.2:p.Phe1246Ter