Canonical Allele Identifier: CA9129657
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1163120
ClinVar RCV Id: RCV001507920
dbSNP Id: rs374873555
ExAC: 19:6713468 G / C
gnomAD v2: 19-6713468-G-C
gnomAD v3: 19-6713457-G-C
gnomAD v4: 19-6713457-G-C
MyVariant Identifiers: chr19:g.6713468G>C (hg19) chr19:g.6713457G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713457G>C , CM000681.2:g.6713457G>C GRCh38
NC_000019.9:g.6713468G>C , CM000681.1:g.6713468G>C GRCh37
NC_000019.8:g.6664468G>C NCBI36
NG_009557.1:g.12195C>G , LRG_27:g.12195C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.703C>G ENSP00000512083.1:p.Gln235Glu
ENST00000695692.1:n.150C>G
ENST00000245907.11:c.826C>G MANE Select ENSP00000245907.4:p.Gln276Glu
ENST00000245907.10:c.826C>G ENSP00000245907.4:p.Gln276Glu
ENST00000595577.1:n.330C>G
ENST00000597442.5:n.76C>G
NM_000064.3:c.826C>G NP_000055.2:p.Gln276Glu
NM_000064.4:c.826C>G MANE Select NP_000055.2:p.Gln276Glu
Search 100 bp 5'
Search 100 bp 3'