Canonical Allele Identifier: CA2587875647
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6697648-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697648C>T , CM000681.2:g.6697648C>T GRCh38
NC_000019.9:g.6697659C>T , CM000681.1:g.6697659C>T GRCh37
NC_000019.8:g.6648659C>T NCBI36
NG_009557.1:g.28004G>A , LRG_27:g.28004G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.931+4G>A
ENST00000695652.1:c.2460+4G>A ENSP00000512083.1:n.2460+4G>A
ENST00000695653.1:c.492+4G>A ENSP00000512084.1:n.492+4G>A
ENST00000695654.1:c.1707+4G>A ENSP00000512085.1:n.1707+4G>A
ENST00000695655.1:c.1524+4G>A ENSP00000512086.1:n.1524+4G>A
ENST00000695692.1:n.1947+4G>A
ENST00000245907.11:c.2583+4G>A MANE Select ENSP00000245907.4:n.2583+4G>A
ENST00000245907.10:c.2583+4G>A ENSP00000245907.4:n.2583+4G>A
ENST00000594005.1:n.68G>A
NM_000064.3:c.2583+4G>A NP_000055.2:n.2583+4G>A
NM_000064.4:c.2583+4G>A MANE Select NP_000055.2:n.2583+4G>A