Canonical Allele Identifier: CA505192457
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs765999872
gnomAD v2: 19-6697683-G-T
gnomAD v4: 19-6697672-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697672G>T , CM000681.2:g.6697672G>T GRCh38
NC_000019.9:g.6697683G>T , CM000681.1:g.6697683G>T GRCh37
NC_000019.8:g.6648683G>T NCBI36
NG_009557.1:g.27980C>A , LRG_27:g.27980C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.911C>A
ENST00000695652.1:c.2440C>A ENSP00000512083.1:p.Arg814=
ENST00000695653.1:c.472C>A ENSP00000512084.1:p.Arg158=
ENST00000695654.1:c.1687C>A ENSP00000512085.1:p.Arg563=
ENST00000695655.1:c.1504C>A ENSP00000512086.1:n.1504C>A
ENST00000695692.1:n.1927C>A
ENST00000245907.11:c.2563C>A MANE Select ENSP00000245907.4:p.Arg855=
ENST00000245907.10:c.2563C>A ENSP00000245907.4:p.Arg855=
ENST00000594005.1:n.44C>A
ENST00000602053.1:n.611C>A
NM_000064.3:c.2563C>A NP_000055.2:p.Arg855=
NM_000064.4:c.2563C>A MANE Select NP_000055.2:p.Arg855=