Canonical Allele Identifier: CA2320559162

Gene: C3

Linked Data

• dbSNP Id: rs1967568846
• gnomAD v3: 19-6697644-G-T
• gnomAD v4: 19-6697644-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697644G>T , CM000681.2:g.6697644G>T	GRCh38
NC_000019.9:g.6697655G>T , CM000681.1:g.6697655G>T	GRCh37
NC_000019.8:g.6648655G>T	NCBI36
NG_009557.1:g.28008C>A , LRG_27:g.28008C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.931+8C>A
ENST00000695652.1:c.2460+8C>A	ENSP00000512083.1:n.2460+8C>A
ENST00000695653.1:c.492+8C>A	ENSP00000512084.1:n.492+8C>A
ENST00000695654.1:c.1707+8C>A	ENSP00000512085.1:n.1707+8C>A
ENST00000695655.1:c.1524+8C>A	ENSP00000512086.1:n.1524+8C>A
ENST00000695692.1:n.1947+8C>A
ENST00000245907.11:c.2583+8C>A MANE Select	ENSP00000245907.4:n.2583+8C>A
ENST00000245907.10:c.2583+8C>A	ENSP00000245907.4:n.2583+8C>A
ENST00000594005.1:n.72C>A
NM_000064.3:c.2583+8C>A	NP_000055.2:n.2583+8C>A
NM_000064.4:c.2583+8C>A MANE Select	NP_000055.2:n.2583+8C>A