Canonical Allele Identifier: CA505193052
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6713262-C-T
MyVariant Identifiers: chr19:g.6713273C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713262C>T , CM000681.2:g.6713262C>T GRCh38
NC_000019.9:g.6713273C>T , CM000681.1:g.6713273C>T GRCh37
NC_000019.8:g.6664273C>T NCBI36
NG_009557.1:g.12390G>A , LRG_27:g.12390G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.807G>A ENSP00000512083.1:p.Gly269=
ENST00000695654.1:c.54G>A ENSP00000512085.1:p.Gly18=
ENST00000695692.1:n.254G>A
ENST00000245907.11:c.930G>A MANE Select ENSP00000245907.4:p.Gly310=
ENST00000245907.10:c.930G>A ENSP00000245907.4:p.Gly310=
ENST00000594270.5:n.54G>A
ENST00000595577.1:n.434G>A
ENST00000597442.5:n.180G>A
NM_000064.3:c.930G>A NP_000055.2:p.Gly310=
NM_000064.4:c.930G>A MANE Select NP_000055.2:p.Gly310=