Canonical Allele Identifier: CA403615502

Gene: C3

Linked Data

• ClinVar Variation Id: 1345571
• ClinVar RCV Id: RCV002049882
• dbSNP Id: rs2145393548
• MyVariant Identifiers: chr19:g.6682220G>C (hg19) ; chr19:g.6682209G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682209G>C , CM000681.2:g.6682209G>C	GRCh38
NC_000019.9:g.6682220G>C , CM000681.1:g.6682220G>C	GRCh37
NC_000019.8:g.6633220G>C	NCBI36
NG_009557.1:g.43443C>G , LRG_27:g.43443C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2541C>G
ENST00000695653.1:c.2102C>G	ENSP00000512084.1:p.Ala701Gly
ENST00000695654.1:c.3218C>G	ENSP00000512085.1:p.Ala1073Gly
ENST00000695689.1:c.164C>G	ENSP00000512101.1:n.164C>G
ENST00000695690.1:n.384C>G
ENST00000695691.1:n.384C>G
ENST00000245907.11:c.4193C>G MANE Select	ENSP00000245907.4:p.Ala1398Gly
ENST00000245907.10:c.4193C>G	ENSP00000245907.4:p.Ala1398Gly
ENST00000596548.1:c.314C>G	ENSP00000469744.1:p.Ala105Gly
ENST00000599899.5:n.1152C>G
ENST00000601008.1:c.242-4251C>G	ENSP00000471384.1:n.242-4251C>G
NM_000064.3:c.4193C>G	NP_000055.2:p.Ala1398Gly
NM_000064.4:c.4193C>G MANE Select	NP_000055.2:p.Ala1398Gly