Canonical Allele Identifier: CA2587875403
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6697327-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697327G>T , CM000681.2:g.6697327G>T GRCh38
NC_000019.9:g.6697338G>T , CM000681.1:g.6697338G>T GRCh37
NC_000019.8:g.6648338G>T NCBI36
NG_009557.1:g.28325C>A , LRG_27:g.28325C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1144+17C>A
ENST00000695652.1:c.2673+17C>A ENSP00000512083.1:n.2673+17C>A
ENST00000695653.1:c.705+17C>A ENSP00000512084.1:n.705+17C>A
ENST00000695654.1:c.1920+17C>A ENSP00000512085.1:n.1920+17C>A
ENST00000695655.1:c.1737+17C>A ENSP00000512086.1:n.1737+17C>A
ENST00000695692.1:n.2160+17C>A
ENST00000245907.11:c.2796+17C>A MANE Select ENSP00000245907.4:n.2796+17C>A
ENST00000245907.10:c.2796+17C>A ENSP00000245907.4:n.2796+17C>A
ENST00000594005.1:n.372+17C>A
NM_000064.3:c.2796+17C>A NP_000055.2:n.2796+17C>A
NM_000064.4:c.2796+17C>A MANE Select NP_000055.2:n.2796+17C>A