Canonical Allele Identifier: CA2320559028

Gene: C3

Linked Data

• ClinVar Variation Id: 1568382
• ClinVar RCV Id: RCV002217003
• dbSNP Id: rs1599510034
• gnomAD v4: 19-6697331-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697331C>T , CM000681.2:g.6697331C>T	GRCh38
NC_000019.9:g.6697342C>T , CM000681.1:g.6697342C>T	GRCh37
NC_000019.8:g.6648342C>T	NCBI36
NG_009557.1:g.28321G>A , LRG_27:g.28321G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1144+13G>A
ENST00000695652.1:c.2673+13G>A	ENSP00000512083.1:n.2673+13G>A
ENST00000695653.1:c.705+13G>A	ENSP00000512084.1:n.705+13G>A
ENST00000695654.1:c.1920+13G>A	ENSP00000512085.1:n.1920+13G>A
ENST00000695655.1:c.1737+13G>A	ENSP00000512086.1:n.1737+13G>A
ENST00000695692.1:n.2160+13G>A
ENST00000245907.11:c.2796+13G>A MANE Select	ENSP00000245907.4:n.2796+13G>A
ENST00000245907.10:c.2796+13G>A	ENSP00000245907.4:n.2796+13G>A
ENST00000594005.1:n.372+13G>A
NM_000064.3:c.2796+13G>A	NP_000055.2:n.2796+13G>A
NM_000064.4:c.2796+13G>A MANE Select	NP_000055.2:n.2796+13G>A