Canonical Allele Identifier: CA9129931

Gene: C3

Linked Data

• ClinVar Variation Id: 330341
• ClinVar RCV Id: RCV000301563 ; RCV000360987 ; RCV000402040 ; RCV001820998 ; RCV003418042
• dbSNP Id: rs528697923
• ExAC: 19:6720601 G / GGT
• gnomAD v2: 19-6720601-G-GGT
• gnomAD v3: 19-6720590-G-GGT
• gnomAD v4: 19-6720590-G-GGT
• MyVariant Identifiers: chr19:g.6720602_6720603dupGT (hg19) ; chr19:g.6720601_6720602insGT (hg19) ; chr19:g.6720591_6720592dupGT (hg38) ; chr19:g.6720590_6720591insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6720592_6720593dup , CM000681.2:g.6720592_6720593dup	GRCh38
NC_000019.9:g.6720603_6720604dup , CM000681.1:g.6720603_6720604dup	GRCh37
NC_000019.8:g.6671603_6671604dup	NCBI36
NG_009557.1:g.5060_5061dup , LRG_27:g.5060_5061dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000594936.2:n.59_60dup
ENST00000695652.1:c.-361_-360dup	ENSP00000512083.1:n.-361_-360dup
ENST00000695693.1:c.-3_-2dup	ENSP00000512104.1:n.-3_-2dup
ENST00000245907.11:c.-3_-2dup MANE Select	ENSP00000245907.4:n.-3_-2dup
ENST00000245907.10:c.-3_-2dup	ENSP00000245907.4:n.-3_-2dup
ENST00000594936.1:n.59_60dup
ENST00000600744.1:c.-49-1189_-49-1188dup	ENSP00000472044.1:n.-49-1189_-49-1188dup
NM_000064.3:c.-3_-2dup	NP_000055.2:n.-3_-2dup
NM_000064.4:c.-3_-2dup MANE Select	NP_000055.2:n.-3_-2dup