Canonical Allele Identifier: CA403633169

Gene: C3

Linked Data

• ClinVar Variation Id: 2618079
• ClinVar RCV Id: RCV003374468
• MyVariant Identifiers: chr19:g.6697501G>T (hg19) ; chr19:g.6697490G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697490G>T , CM000681.2:g.6697490G>T	GRCh38
NC_000019.9:g.6697501G>T , CM000681.1:g.6697501G>T	GRCh37
NC_000019.8:g.6648501G>T	NCBI36
NG_009557.1:g.28162C>A , LRG_27:g.28162C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.998C>A
ENST00000695652.1:c.2527C>A	ENSP00000512083.1:p.Gln843Lys
ENST00000695653.1:c.559C>A	ENSP00000512084.1:p.Gln187Lys
ENST00000695654.1:c.1774C>A	ENSP00000512085.1:p.Gln592Lys
ENST00000695655.1:c.1591C>A	ENSP00000512086.1:n.1591C>A
ENST00000695692.1:n.2014C>A
ENST00000245907.11:c.2650C>A MANE Select	ENSP00000245907.4:p.Gln884Lys
ENST00000245907.10:c.2650C>A	ENSP00000245907.4:p.Gln884Lys
ENST00000594005.1:n.226C>A
NM_000064.3:c.2650C>A	NP_000055.2:p.Gln884Lys
NM_000064.4:c.2650C>A MANE Select	NP_000055.2:p.Gln884Lys