Canonical Allele Identifier: CA403633349

Gene: C3

Linked Data

• ClinVar Variation Id: 1721989
• ClinVar RCV Id: RCV002295067
• MyVariant Identifiers: chr19:g.6697525C>T (hg19) ; chr19:g.6697514C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697514C>T , CM000681.2:g.6697514C>T	GRCh38
NC_000019.9:g.6697525C>T , CM000681.1:g.6697525C>T	GRCh37
NC_000019.8:g.6648525C>T	NCBI36
NG_009557.1:g.28138G>A , LRG_27:g.28138G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.974G>A
ENST00000695652.1:c.2503G>A	ENSP00000512083.1:p.Ala835Thr
ENST00000695653.1:c.535G>A	ENSP00000512084.1:p.Ala179Thr
ENST00000695654.1:c.1750G>A	ENSP00000512085.1:p.Ala584Thr
ENST00000695655.1:c.1567G>A	ENSP00000512086.1:n.1567G>A
ENST00000695692.1:n.1990G>A
ENST00000245907.11:c.2626G>A MANE Select	ENSP00000245907.4:p.Ala876Thr
ENST00000245907.10:c.2626G>A	ENSP00000245907.4:p.Ala876Thr
ENST00000594005.1:n.202G>A
NM_000064.3:c.2626G>A	NP_000055.2:p.Ala876Thr
NM_000064.4:c.2626G>A MANE Select	NP_000055.2:p.Ala876Thr