Canonical Allele Identifier: CA2320553435
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2079737
ClinVar RCV Id: RCV002998749
dbSNP Id: rs367925592
gnomAD v4: 19-6686115-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686115C>T , CM000681.2:g.6686115C>T GRCh38
NC_000019.9:g.6686126C>T , CM000681.1:g.6686126C>T GRCh37
NC_000019.8:g.6637126C>T NCBI36
NG_009557.1:g.39537G>A , LRG_27:g.39537G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2158+9G>A
ENST00000695653.1:c.1719+9G>A ENSP00000512084.1:n.1719+9G>A
ENST00000695654.1:c.2835+9G>A ENSP00000512085.1:n.2835+9G>A
ENST00000695692.1:n.3183G>A
ENST00000245907.11:c.3810+9G>A MANE Select ENSP00000245907.4:n.3810+9G>A
ENST00000245907.10:c.3810+9G>A ENSP00000245907.4:n.3810+9G>A
ENST00000596238.1:n.253+9G>A
ENST00000601008.1:c.241+631G>A ENSP00000471384.1:n.241+631G>A
NM_000064.3:c.3810+9G>A NP_000055.2:n.3810+9G>A
NM_000064.4:c.3810+9G>A MANE Select NP_000055.2:n.3810+9G>A
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