Canonical Allele Identifier: CA403639143

Gene: C3

Linked Data

• gnomAD v3: 19-6709687-A-C
• gnomAD v4: 19-6709687-A-C
• MyVariant Identifiers: chr19:g.6709698A>C (hg19) ; chr19:g.6709687A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709687A>C , CM000681.2:g.6709687A>C	GRCh38
NC_000019.9:g.6709698A>C , CM000681.1:g.6709698A>C	GRCh37
NC_000019.8:g.6660698A>C	NCBI36
NG_009557.1:g.15965T>G , LRG_27:g.15965T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695652.1:c.1719T>G	ENSP00000512083.1:p.Ser573Arg
ENST00000695654.1:c.966T>G	ENSP00000512085.1:p.Ser322Arg
ENST00000695655.1:c.783T>G	ENSP00000512086.1:n.783T>G
ENST00000695692.1:n.1206T>G
ENST00000245907.11:c.1842T>G MANE Select	ENSP00000245907.4:p.Ser614Arg
ENST00000245907.10:c.1842T>G	ENSP00000245907.4:p.Ser614Arg
NM_000064.3:c.1842T>G	NP_000055.2:p.Ser614Arg
NM_000064.4:c.1842T>G MANE Select	NP_000055.2:p.Ser614Arg