Canonical Allele Identifier: CA9128641

Gene: C3

Linked Data

• ClinVar Variation Id: 1310853
• ClinVar RCV Id: RCV001761023
• dbSNP Id: rs371629277
• ExAC: 19:6686180 C / G
• gnomAD v2: 19-6686180-C-G
• gnomAD v3: 19-6686169-C-G
• gnomAD v4: 19-6686169-C-G
• MyVariant Identifiers: chr19:g.6686180C>G (hg19) ; chr19:g.6686169C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686169C>G , CM000681.2:g.6686169C>G	GRCh38
NC_000019.9:g.6686180C>G , CM000681.1:g.6686180C>G	GRCh37
NC_000019.8:g.6637180C>G	NCBI36
NG_009557.1:g.39483G>C , LRG_27:g.39483G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2113G>C
ENST00000695652.1:c.3642G>C	ENSP00000512083.1:p.Trp1214Cys
ENST00000695653.1:c.1674G>C	ENSP00000512084.1:p.Trp558Cys
ENST00000695654.1:c.2790G>C	ENSP00000512085.1:p.Trp930Cys
ENST00000695655.1:c.2706G>C	ENSP00000512086.1:n.2706G>C
ENST00000695692.1:n.3129G>C
ENST00000245907.11:c.3765G>C MANE Select	ENSP00000245907.4:p.Trp1255Cys
ENST00000245907.10:c.3765G>C	ENSP00000245907.4:p.Trp1255Cys
ENST00000596238.1:n.208G>C
ENST00000601008.1:c.241+577G>C	ENSP00000471384.1:n.241+577G>C
NM_000064.3:c.3765G>C	NP_000055.2:p.Trp1255Cys
NM_000064.4:c.3765G>C MANE Select	NP_000055.2:p.Trp1255Cys