Canonical Allele Identifier: CA9129727
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs750264141
ExAC: 19:6714146 A / G
gnomAD v2: 19-6714146-A-G
gnomAD v4: 19-6714135-A-G
MyVariant Identifiers: chr19:g.6714146A>G (hg19) chr19:g.6714135A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714135A>G , CM000681.2:g.6714135A>G GRCh38
NC_000019.9:g.6714146A>G , CM000681.1:g.6714146A>G GRCh37
NC_000019.8:g.6665146A>G NCBI36
NG_009557.1:g.11517T>C , LRG_27:g.11517T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.559+31T>C ENSP00000512083.1:n.559+31T>C
ENST00000245907.11:c.682+31T>C MANE Select ENSP00000245907.4:n.682+31T>C
ENST00000245907.10:c.682+31T>C ENSP00000245907.4:n.682+31T>C
ENST00000595577.1:n.186+31T>C
NM_000064.3:c.682+31T>C NP_000055.2:n.682+31T>C
NM_000064.4:c.682+31T>C MANE Select NP_000055.2:n.682+31T>C
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