Canonical Allele Identifier: CA993062008

Gene: C3

Linked Data

• dbSNP Id: rs1599510328
• gnomAD v3: 19-6697605-C-T
• gnomAD v4: 19-6697605-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697605C>T , CM000681.2:g.6697605C>T	GRCh38
NC_000019.9:g.6697616C>T , CM000681.1:g.6697616C>T	GRCh37
NC_000019.8:g.6648616C>T	NCBI36
NG_009557.1:g.28047G>A , LRG_27:g.28047G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.931+47G>A
ENST00000695652.1:c.2460+47G>A	ENSP00000512083.1:n.2460+47G>A
ENST00000695653.1:c.492+47G>A	ENSP00000512084.1:n.492+47G>A
ENST00000695654.1:c.1707+47G>A	ENSP00000512085.1:n.1707+47G>A
ENST00000695655.1:c.1524+47G>A	ENSP00000512086.1:n.1524+47G>A
ENST00000695692.1:n.1947+47G>A
ENST00000245907.11:c.2583+47G>A MANE Select	ENSP00000245907.4:n.2583+47G>A
ENST00000245907.10:c.2583+47G>A	ENSP00000245907.4:n.2583+47G>A
ENST00000594005.1:n.111G>A
NM_000064.3:c.2583+47G>A	NP_000055.2:n.2583+47G>A
NM_000064.4:c.2583+47G>A MANE Select	NP_000055.2:n.2583+47G>A