Canonical Allele Identifier: CA304771633
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs957097059
gnomAD v3: 19-6679309-C-A
gnomAD v4: 19-6679309-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679309C>A , CM000681.2:g.6679309C>A GRCh38
NC_000019.9:g.6679320C>A , CM000681.1:g.6679320C>A GRCh37
NC_000019.8:g.6630320C>A NCBI36
NG_009557.1:g.46343G>T , LRG_27:g.46343G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2894+98G>T
ENST00000695653.1:c.2455+98G>T ENSP00000512084.1:n.2455+98G>T
ENST00000695654.1:c.3571+98G>T ENSP00000512085.1:n.3571+98G>T
ENST00000695689.1:c.517+98G>T ENSP00000512101.1:n.517+98G>T
ENST00000695690.1:n.1611+98G>T
ENST00000695691.1:n.1407+98G>T
ENST00000245907.11:c.4546+98G>T MANE Select ENSP00000245907.4:n.4546+98G>T
ENST00000245907.10:c.4546+98G>T ENSP00000245907.4:n.4546+98G>T
ENST00000599668.1:n.166+73G>T
ENST00000599899.5:n.1505+98G>T
ENST00000601008.1:c.242-1351G>T ENSP00000471384.1:n.242-1351G>T
NM_000064.3:c.4546+98G>T NP_000055.2:n.4546+98G>T
NM_000064.4:c.4546+98G>T MANE Select NP_000055.2:n.4546+98G>T