Canonical Allele Identifier: CA403642315

Gene: C3

Linked Data

• gnomAD v4: 19-6713297-C-G
• MyVariant Identifiers: chr19:g.6713308C>G (hg19) ; chr19:g.6713297C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713297C>G , CM000681.2:g.6713297C>G	GRCh38
NC_000019.9:g.6713308C>G , CM000681.1:g.6713308C>G	GRCh37
NC_000019.8:g.6664308C>G	NCBI36
NG_009557.1:g.12355G>C , LRG_27:g.12355G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.772G>C	ENSP00000512083.1:p.Glu258Gln
ENST00000695654.1:c.19G>C	ENSP00000512085.1:p.Glu7Gln
ENST00000695692.1:n.219G>C
ENST00000245907.11:c.895G>C MANE Select	ENSP00000245907.4:p.Glu299Gln
ENST00000245907.10:c.895G>C	ENSP00000245907.4:p.Glu299Gln
ENST00000594270.5:n.19G>C
ENST00000595577.1:n.399G>C
ENST00000597442.5:n.145G>C
NM_000064.3:c.895G>C	NP_000055.2:p.Glu299Gln
NM_000064.4:c.895G>C MANE Select	NP_000055.2:p.Glu299Gln