Canonical Allele Identifier: CA2576661550
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6697299-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697299G>T , CM000681.2:g.6697299G>T GRCh38
NC_000019.9:g.6697310G>T , CM000681.1:g.6697310G>T GRCh37
NC_000019.8:g.6648310G>T NCBI36
NG_009557.1:g.28353C>A , LRG_27:g.28353C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1144+45C>A
ENST00000695652.1:c.2673+45C>A ENSP00000512083.1:n.2673+45C>A
ENST00000695653.1:c.705+45C>A ENSP00000512084.1:n.705+45C>A
ENST00000695654.1:c.1920+45C>A ENSP00000512085.1:n.1920+45C>A
ENST00000695655.1:c.1737+45C>A ENSP00000512086.1:n.1737+45C>A
ENST00000695692.1:n.2160+45C>A
ENST00000245907.11:c.2796+45C>A MANE Select ENSP00000245907.4:n.2796+45C>A
ENST00000245907.10:c.2796+45C>A ENSP00000245907.4:n.2796+45C>A
ENST00000594005.1:n.372+45C>A
NM_000064.3:c.2796+45C>A NP_000055.2:n.2796+45C>A
NM_000064.4:c.2796+45C>A MANE Select NP_000055.2:n.2796+45C>A