Canonical Allele Identifier: CA631662392

Gene: C3

Linked Data

• ClinVar Variation Id: 2793937
• ClinVar RCV Id: RCV003670549
• dbSNP Id: rs1568227060
• gnomAD v2: 19-6714162-CCCT-C
• gnomAD v4: 19-6714151-CCCT-C
• MyVariant Identifiers: chr19:g.6714163_6714165del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6714159_6714161del , CM000681.2:g.6714159_6714161del	GRCh38
NC_000019.9:g.6714170_6714172del , CM000681.1:g.6714170_6714172del	GRCh37
NC_000019.8:g.6665170_6665172del	NCBI36
NG_009557.1:g.11498_11500del , LRG_27:g.11498_11500del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.559+12_559+14del	ENSP00000512083.1:n.559+12_559+14del
ENST00000245907.11:c.682+12_682+14del MANE Select	ENSP00000245907.4:n.682+12_682+14del
ENST00000245907.10:c.682+12_682+14del	ENSP00000245907.4:n.682+12_682+14del
ENST00000595577.1:n.186+12_186+14del
NM_000064.3:c.682+12_682+14del	NP_000055.2:n.682+12_682+14del
NM_000064.4:c.682+12_682+14del MANE Select	NP_000055.2:n.682+12_682+14del