Canonical Allele Identifier: CA403633795
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1241974617
gnomAD v3: 19-6697675-A-T
gnomAD v4: 19-6697675-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697675A>T , CM000681.2:g.6697675A>T GRCh38
NC_000019.9:g.6697686A>T , CM000681.1:g.6697686A>T GRCh37
NC_000019.8:g.6648686A>T NCBI36
NG_009557.1:g.27977T>A , LRG_27:g.27977T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.908T>A
ENST00000695652.1:c.2437T>A ENSP00000512083.1:p.Tyr813Asn
ENST00000695653.1:c.469T>A ENSP00000512084.1:p.Tyr157Asn
ENST00000695654.1:c.1684T>A ENSP00000512085.1:p.Tyr562Asn
ENST00000695655.1:c.1501T>A ENSP00000512086.1:n.1501T>A
ENST00000695692.1:n.1924T>A
ENST00000245907.11:c.2560T>A MANE Select ENSP00000245907.4:p.Tyr854Asn
ENST00000245907.10:c.2560T>A ENSP00000245907.4:p.Tyr854Asn
ENST00000594005.1:n.41T>A
ENST00000602053.1:n.608T>A
NM_000064.3:c.2560T>A NP_000055.2:p.Tyr854Asn
NM_000064.4:c.2560T>A MANE Select NP_000055.2:p.Tyr854Asn