Canonical Allele Identifier: CA403642607
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1345792
ClinVar RCV Id: RCV002049938
dbSNP Id: rs2145430999

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713454C>T , CM000681.2:g.6713454C>T GRCh38
NC_000019.9:g.6713465C>T , CM000681.1:g.6713465C>T GRCh37
NC_000019.8:g.6664465C>T NCBI36
NG_009557.1:g.12198G>A , LRG_27:g.12198G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.706G>A ENSP00000512083.1:p.Asp236Asn
ENST00000695692.1:n.153G>A
ENST00000245907.11:c.829G>A MANE Select ENSP00000245907.4:p.Asp277Asn
ENST00000245907.10:c.829G>A ENSP00000245907.4:p.Asp277Asn
ENST00000595577.1:n.333G>A
ENST00000597442.5:n.79G>A
NM_000064.3:c.829G>A NP_000055.2:p.Asp277Asn
NM_000064.4:c.829G>A MANE Select NP_000055.2:p.Asp277Asn