Canonical Allele Identifier: CA9129348
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs780877533
gnomAD v2: 19-6709822-C-A
gnomAD v3: 19-6709811-C-A
gnomAD v4: 19-6709811-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709811C>A , CM000681.2:g.6709811C>A GRCh38
NC_000019.9:g.6709822C>A , CM000681.1:g.6709822C>A GRCh37
NC_000019.8:g.6660822C>A NCBI36
NG_009557.1:g.15841G>T , LRG_27:g.15841G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1595G>T ENSP00000512083.1:p.Arg532Leu
ENST00000695654.1:c.842G>T ENSP00000512085.1:p.Arg281Leu
ENST00000695655.1:c.659G>T ENSP00000512086.1:n.659G>T
ENST00000695692.1:n.1082G>T
ENST00000245907.11:c.1718G>T MANE Select ENSP00000245907.4:p.Arg573Leu
ENST00000245907.10:c.1718G>T ENSP00000245907.4:p.Arg573Leu
ENST00000600763.1:n.351G>T
NM_000064.3:c.1718G>T NP_000055.2:p.Arg573Leu
NM_000064.4:c.1718G>T MANE Select NP_000055.2:p.Arg573Leu