Canonical Allele Identifier: CA9128993

Gene: C3

Linked Data

• ClinVar Variation Id: 330302
• ClinVar RCV Id: RCV000262667 ; RCV000301471 ; RCV000354037 ; RCV002521256
• dbSNP Id: rs763155610
• ExAC: 19:6697451 G / C
• gnomAD v2: 19-6697451-G-C
• gnomAD v3: 19-6697440-G-C
• gnomAD v4: 19-6697440-G-C
• MyVariant Identifiers: chr19:g.6697451G>C (hg19) ; chr19:g.6697440G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697440G>C , CM000681.2:g.6697440G>C	GRCh38
NC_000019.9:g.6697451G>C , CM000681.1:g.6697451G>C	GRCh37
NC_000019.8:g.6648451G>C	NCBI36
NG_009557.1:g.28212C>G , LRG_27:g.28212C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1048C>G
ENST00000695652.1:c.2577C>G	ENSP00000512083.1:p.Ile859Met
ENST00000695653.1:c.609C>G	ENSP00000512084.1:p.Ile203Met
ENST00000695654.1:c.1824C>G	ENSP00000512085.1:p.Ile608Met
ENST00000695655.1:c.1641C>G	ENSP00000512086.1:n.1641C>G
ENST00000695692.1:n.2064C>G
ENST00000245907.11:c.2700C>G MANE Select	ENSP00000245907.4:p.Ile900Met
ENST00000245907.10:c.2700C>G	ENSP00000245907.4:p.Ile900Met
ENST00000594005.1:n.276C>G
NM_000064.3:c.2700C>G	NP_000055.2:p.Ile900Met
NM_000064.4:c.2700C>G MANE Select	NP_000055.2:p.Ile900Met