Canonical Allele Identifier: CA403620131

Gene: C3

Linked Data

• ClinVar Variation Id: 1419844
• ClinVar RCV Id: RCV001940752
• dbSNP Id: rs2145398174
• MyVariant Identifiers: chr19:g.6686277G>A (hg19) ; chr19:g.6686266G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686266G>A , CM000681.2:g.6686266G>A	GRCh38
NC_000019.9:g.6686277G>A , CM000681.1:g.6686277G>A	GRCh37
NC_000019.8:g.6637277G>A	NCBI36
NG_009557.1:g.39386C>T , LRG_27:g.39386C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2016C>T
ENST00000695652.1:c.3545C>T	ENSP00000512083.1:p.Pro1182Leu
ENST00000695653.1:c.1577C>T	ENSP00000512084.1:p.Pro526Leu
ENST00000695654.1:c.2693C>T	ENSP00000512085.1:p.Pro898Leu
ENST00000695655.1:c.2609C>T	ENSP00000512086.1:n.2609C>T
ENST00000695692.1:n.3032C>T
ENST00000245907.11:c.3668C>T MANE Select	ENSP00000245907.4:p.Pro1223Leu
ENST00000245907.10:c.3668C>T	ENSP00000245907.4:p.Pro1223Leu
ENST00000596238.1:n.111C>T
ENST00000601008.1:c.241+480C>T	ENSP00000471384.1:n.241+480C>T
NM_000064.3:c.3668C>T	NP_000055.2:p.Pro1223Leu
NM_000064.4:c.3668C>T MANE Select	NP_000055.2:p.Pro1223Leu