Canonical Allele Identifier: CA2587875395
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6697302-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697302C>G , CM000681.2:g.6697302C>G GRCh38
NC_000019.9:g.6697313C>G , CM000681.1:g.6697313C>G GRCh37
NC_000019.8:g.6648313C>G NCBI36
NG_009557.1:g.28350G>C , LRG_27:g.28350G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1144+42G>C
ENST00000695652.1:c.2673+42G>C ENSP00000512083.1:n.2673+42G>C
ENST00000695653.1:c.705+42G>C ENSP00000512084.1:n.705+42G>C
ENST00000695654.1:c.1920+42G>C ENSP00000512085.1:n.1920+42G>C
ENST00000695655.1:c.1737+42G>C ENSP00000512086.1:n.1737+42G>C
ENST00000695692.1:n.2160+42G>C
ENST00000245907.11:c.2796+42G>C MANE Select ENSP00000245907.4:n.2796+42G>C
ENST00000245907.10:c.2796+42G>C ENSP00000245907.4:n.2796+42G>C
ENST00000594005.1:n.372+42G>C
NM_000064.3:c.2796+42G>C NP_000055.2:n.2796+42G>C
NM_000064.4:c.2796+42G>C MANE Select NP_000055.2:n.2796+42G>C