Canonical Allele Identifier: CA631662064

Gene: C3

Linked Data

• dbSNP Id: rs1291674641
• gnomAD v2: 19-6712943-GGACACA-G
• gnomAD v3: 19-6712932-GGACACA-G
• gnomAD v4: 19-6712932-GGACACA-G
• MyVariant Identifiers: chr19:g.6712944_6712949del (hg19) ; chr19:g.6712933_6712938del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6712936_6712941del , CM000681.2:g.6712936_6712941del	GRCh38
NC_000019.9:g.6712947_6712952del , CM000681.1:g.6712947_6712952del	GRCh37
NC_000019.8:g.6663947_6663952del	NCBI36
NG_009557.1:g.12714_12719del , LRG_27:g.12714_12719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.880+251_880+256del	ENSP00000512083.1:n.880+251_880+256del
ENST00000695654.1:c.127+251_127+256del	ENSP00000512085.1:n.127+251_127+256del
ENST00000695692.1:n.327+251_327+256del
ENST00000245907.11:c.1003+251_1003+256del MANE Select	ENSP00000245907.4:n.1003+251_1003+256del
ENST00000245907.10:c.1003+251_1003+256del	ENSP00000245907.4:n.1003+251_1003+256del
ENST00000594270.5:n.127+251_127+256del
ENST00000595577.1:n.507+251_507+256del
ENST00000597442.5:n.253+251_253+256del
NM_000064.3:c.1003+251_1003+256del	NP_000055.2:n.1003+251_1003+256del
NM_000064.4:c.1003+251_1003+256del MANE Select	NP_000055.2:n.1003+251_1003+256del