Canonical Allele Identifier: CA304797358
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs755176995
gnomAD v2: 19-6712982-C-T
gnomAD v3: 19-6712971-C-T
gnomAD v4: 19-6712971-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6712971C>T , CM000681.2:g.6712971C>T GRCh38
NC_000019.9:g.6712982C>T , CM000681.1:g.6712982C>T GRCh37
NC_000019.8:g.6663982C>T NCBI36
NG_009557.1:g.12681G>A , LRG_27:g.12681G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.880+218G>A ENSP00000512083.1:n.880+218G>A
ENST00000695654.1:c.127+218G>A ENSP00000512085.1:n.127+218G>A
ENST00000695692.1:n.327+218G>A
ENST00000245907.11:c.1003+218G>A MANE Select ENSP00000245907.4:n.1003+218G>A
ENST00000245907.10:c.1003+218G>A ENSP00000245907.4:n.1003+218G>A
ENST00000594270.5:n.127+218G>A
ENST00000595577.1:n.507+218G>A
ENST00000597442.5:n.253+218G>A
NM_000064.3:c.1003+218G>A NP_000055.2:n.1003+218G>A
NM_000064.4:c.1003+218G>A MANE Select NP_000055.2:n.1003+218G>A