Canonical Allele Identifier: CA403619556

Gene: C3

Linked Data

• dbSNP Id: rs571907143
• gnomAD v3: 19-6686173-C-A
• gnomAD v4: 19-6686173-C-A
• MyVariant Identifiers: chr19:g.6686184C>A (hg19) ; chr19:g.6686173C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686173C>A , CM000681.2:g.6686173C>A	GRCh38
NC_000019.9:g.6686184C>A , CM000681.1:g.6686184C>A	GRCh37
NC_000019.8:g.6637184C>A	NCBI36
NG_009557.1:g.39479G>T , LRG_27:g.39479G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2109G>T
ENST00000695652.1:c.3638G>T	ENSP00000512083.1:p.Arg1213Leu
ENST00000695653.1:c.1670G>T	ENSP00000512084.1:p.Arg557Leu
ENST00000695654.1:c.2786G>T	ENSP00000512085.1:p.Arg929Leu
ENST00000695655.1:c.2702G>T	ENSP00000512086.1:n.2702G>T
ENST00000695692.1:n.3125G>T
ENST00000245907.11:c.3761G>T MANE Select	ENSP00000245907.4:p.Arg1254Leu
ENST00000245907.10:c.3761G>T	ENSP00000245907.4:p.Arg1254Leu
ENST00000596238.1:n.204G>T
ENST00000601008.1:c.241+573G>T	ENSP00000471384.1:n.241+573G>T
NM_000064.3:c.3761G>T	NP_000055.2:p.Arg1254Leu
NM_000064.4:c.3761G>T MANE Select	NP_000055.2:p.Arg1254Leu