Canonical Allele Identifier: CA9129622
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs551581582
gnomAD v2: 19-6713295-C-A
gnomAD v3: 19-6713284-C-A
gnomAD v4: 19-6713284-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713284C>A , CM000681.2:g.6713284C>A GRCh38
NC_000019.9:g.6713295C>A , CM000681.1:g.6713295C>A GRCh37
NC_000019.8:g.6664295C>A NCBI36
NG_009557.1:g.12368G>T , LRG_27:g.12368G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.785G>T ENSP00000512083.1:p.Ser262Ile
ENST00000695654.1:c.32G>T ENSP00000512085.1:p.Ser11Ile
ENST00000695692.1:n.232G>T
ENST00000245907.11:c.908G>T MANE Select ENSP00000245907.4:p.Ser303Ile
ENST00000245907.10:c.908G>T ENSP00000245907.4:p.Ser303Ile
ENST00000594270.5:n.32G>T
ENST00000595577.1:n.412G>T
ENST00000597442.5:n.158G>T
NM_000064.3:c.908G>T NP_000055.2:p.Ser303Ile
NM_000064.4:c.908G>T MANE Select NP_000055.2:p.Ser303Ile