Canonical Allele Identifier: CA505123664

Gene: C3

Linked Data

• ClinVar Variation Id: 2026965
• ClinVar RCV Id: RCV002871628
• dbSNP Id: rs1304420990
• gnomAD v2: 19-6686156-A-G
• gnomAD v4: 19-6686145-A-G
• MyVariant Identifiers: chr19:g.6686156A>G (hg19) ; chr19:g.6686145A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686145A>G , CM000681.2:g.6686145A>G	GRCh38
NC_000019.9:g.6686156A>G , CM000681.1:g.6686156A>G	GRCh37
NC_000019.8:g.6637156A>G	NCBI36
NG_009557.1:g.39507T>C , LRG_27:g.39507T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2137T>C
ENST00000695652.1:c.3666T>C	ENSP00000512083.1:p.Gly1222=
ENST00000695653.1:c.1698T>C	ENSP00000512084.1:p.Gly566=
ENST00000695654.1:c.2814T>C	ENSP00000512085.1:p.Gly938=
ENST00000695655.1:c.2730T>C	ENSP00000512086.1:n.2730T>C
ENST00000695692.1:n.3153T>C
ENST00000245907.11:c.3789T>C MANE Select	ENSP00000245907.4:p.Gly1263=
ENST00000245907.10:c.3789T>C	ENSP00000245907.4:p.Gly1263=
ENST00000596238.1:n.232T>C
ENST00000601008.1:c.241+601T>C	ENSP00000471384.1:n.241+601T>C
NM_000064.3:c.3789T>C	NP_000055.2:p.Gly1263=
NM_000064.4:c.3789T>C MANE Select	NP_000055.2:p.Gly1263=