Canonical Allele Identifier: CA884128603
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1384744598
gnomAD v3: 19-6679878-C-A
gnomAD v4: 19-6679878-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679878C>A , CM000681.2:g.6679878C>A GRCh38
NC_000019.9:g.6679889C>A , CM000681.1:g.6679889C>A GRCh37
NC_000019.8:g.6630889C>A NCBI36
NG_009557.1:g.45774G>T , LRG_27:g.45774G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2804+280G>T
ENST00000695653.1:c.2365+280G>T ENSP00000512084.1:n.2365+280G>T
ENST00000695654.1:c.3481+280G>T ENSP00000512085.1:n.3481+280G>T
ENST00000695689.1:c.427+280G>T ENSP00000512101.1:n.427+280G>T
ENST00000695690.1:n.1521+280G>T
ENST00000695691.1:n.1317+280G>T
ENST00000245907.11:c.4456+280G>T MANE Select ENSP00000245907.4:n.4456+280G>T
ENST00000245907.10:c.4456+280G>T ENSP00000245907.4:n.4456+280G>T
ENST00000599668.1:n.51+223G>T
ENST00000599899.5:n.1415+280G>T
ENST00000601008.1:c.242-1920G>T ENSP00000471384.1:n.242-1920G>T
NM_000064.3:c.4456+280G>T NP_000055.2:n.4456+280G>T
NM_000064.4:c.4456+280G>T MANE Select NP_000055.2:n.4456+280G>T