Canonical Allele Identifier: CA9128649

Gene: C3

Linked Data

• ClinVar Variation Id: 2972324
• ClinVar RCV Id: RCV003835450
• dbSNP Id: rs376918933
• ExAC: 19:6686195 A / G
• gnomAD v2: 19-6686195-A-G
• gnomAD v3: 19-6686184-A-G
• gnomAD v4: 19-6686184-A-G
• MyVariant Identifiers: chr19:g.6686195A>G (hg19) ; chr19:g.6686184A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686184A>G , CM000681.2:g.6686184A>G	GRCh38
NC_000019.9:g.6686195A>G , CM000681.1:g.6686195A>G	GRCh37
NC_000019.8:g.6637195A>G	NCBI36
NG_009557.1:g.39468T>C , LRG_27:g.39468T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2098T>C
ENST00000695652.1:c.3627T>C	ENSP00000512083.1:p.Pro1209=
ENST00000695653.1:c.1659T>C	ENSP00000512084.1:p.Pro553=
ENST00000695654.1:c.2775T>C	ENSP00000512085.1:p.Pro925=
ENST00000695655.1:c.2691T>C	ENSP00000512086.1:n.2691T>C
ENST00000695692.1:n.3114T>C
ENST00000245907.11:c.3750T>C MANE Select	ENSP00000245907.4:p.Pro1250=
ENST00000245907.10:c.3750T>C	ENSP00000245907.4:p.Pro1250=
ENST00000596238.1:n.193T>C
ENST00000601008.1:c.241+562T>C	ENSP00000471384.1:n.241+562T>C
NM_000064.3:c.3750T>C	NP_000055.2:p.Pro1250=
NM_000064.4:c.3750T>C MANE Select	NP_000055.2:p.Pro1250=