Canonical Allele Identifier: CA2576591705

Gene: C3

Linked Data

• gnomAD v4: 19-6679335-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679335G>A , CM000681.2:g.6679335G>A	GRCh38
NC_000019.9:g.6679346G>A , CM000681.1:g.6679346G>A	GRCh37
NC_000019.8:g.6630346G>A	NCBI36
NG_009557.1:g.46317C>T , LRG_27:g.46317C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2894+72C>T
ENST00000695653.1:c.2455+72C>T	ENSP00000512084.1:n.2455+72C>T
ENST00000695654.1:c.3571+72C>T	ENSP00000512085.1:n.3571+72C>T
ENST00000695689.1:c.517+72C>T	ENSP00000512101.1:n.517+72C>T
ENST00000695690.1:n.1611+72C>T
ENST00000695691.1:n.1407+72C>T
ENST00000245907.11:c.4546+72C>T MANE Select	ENSP00000245907.4:n.4546+72C>T
ENST00000245907.10:c.4546+72C>T	ENSP00000245907.4:n.4546+72C>T
ENST00000599668.1:n.166+47C>T
ENST00000599899.5:n.1505+72C>T
ENST00000601008.1:c.242-1377C>T	ENSP00000471384.1:n.242-1377C>T
NM_000064.3:c.4546+72C>T	NP_000055.2:n.4546+72C>T
NM_000064.4:c.4546+72C>T MANE Select	NP_000055.2:n.4546+72C>T