Canonical Allele Identifier: CA2582310606

Gene: C3

Linked Data

• dbSNP Id: rs2145390430
• gnomAD v3: 19-6679330-T-C
• gnomAD v4: 19-6679330-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679330T>C , CM000681.2:g.6679330T>C	GRCh38
NC_000019.9:g.6679341T>C , CM000681.1:g.6679341T>C	GRCh37
NC_000019.8:g.6630341T>C	NCBI36
NG_009557.1:g.46322A>G , LRG_27:g.46322A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2894+77A>G
ENST00000695653.1:c.2455+77A>G	ENSP00000512084.1:n.2455+77A>G
ENST00000695654.1:c.3571+77A>G	ENSP00000512085.1:n.3571+77A>G
ENST00000695689.1:c.517+77A>G	ENSP00000512101.1:n.517+77A>G
ENST00000695690.1:n.1611+77A>G
ENST00000695691.1:n.1407+77A>G
ENST00000245907.11:c.4546+77A>G MANE Select	ENSP00000245907.4:n.4546+77A>G
ENST00000245907.10:c.4546+77A>G	ENSP00000245907.4:n.4546+77A>G
ENST00000599668.1:n.166+52A>G
ENST00000599899.5:n.1505+77A>G
ENST00000601008.1:c.242-1372A>G	ENSP00000471384.1:n.242-1372A>G
NM_000064.3:c.4546+77A>G	NP_000055.2:n.4546+77A>G
NM_000064.4:c.4546+77A>G MANE Select	NP_000055.2:n.4546+77A>G