Canonical Allele Identifier: CA403642179
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1406559615
gnomAD v2: 19-6713265-T-G
gnomAD v4: 19-6713254-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713254T>G , CM000681.2:g.6713254T>G GRCh38
NC_000019.9:g.6713265T>G , CM000681.1:g.6713265T>G GRCh37
NC_000019.8:g.6664265T>G NCBI36
NG_009557.1:g.12398A>C , LRG_27:g.12398A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.815A>C ENSP00000512083.1:p.Asn272Thr
ENST00000695654.1:c.62A>C ENSP00000512085.1:p.Asn21Thr
ENST00000695692.1:n.262A>C
ENST00000245907.11:c.938A>C MANE Select ENSP00000245907.4:p.Asn313Thr
ENST00000245907.10:c.938A>C ENSP00000245907.4:p.Asn313Thr
ENST00000594270.5:n.62A>C
ENST00000595577.1:n.442A>C
ENST00000597442.5:n.188A>C
NM_000064.3:c.938A>C NP_000055.2:p.Asn313Thr
NM_000064.4:c.938A>C MANE Select NP_000055.2:p.Asn313Thr