Canonical Allele Identifier: CA403639615
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6709829-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709829C>T , CM000681.2:g.6709829C>T GRCh38
NC_000019.9:g.6709840C>T , CM000681.1:g.6709840C>T GRCh37
NC_000019.8:g.6660840C>T NCBI36
NG_009557.1:g.15823G>A , LRG_27:g.15823G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1577G>A ENSP00000512083.1:p.Ser526Asn
ENST00000695654.1:c.824G>A ENSP00000512085.1:p.Ser275Asn
ENST00000695655.1:c.641G>A ENSP00000512086.1:n.641G>A
ENST00000695692.1:n.1064G>A
ENST00000245907.11:c.1700G>A MANE Select ENSP00000245907.4:p.Ser567Asn
ENST00000245907.10:c.1700G>A ENSP00000245907.4:p.Ser567Asn
ENST00000600763.1:n.333G>A
NM_000064.3:c.1700G>A NP_000055.2:p.Ser567Asn
NM_000064.4:c.1700G>A MANE Select NP_000055.2:p.Ser567Asn