Canonical Allele Identifier: CA9129656
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2067659
ClinVar RCV Id: RCV002954065
dbSNP Id: rs140126161
ExAC: 19:6713463 A / C
gnomAD v2: 19-6713463-A-C
gnomAD v3: 19-6713452-A-C
gnomAD v4: 19-6713452-A-C
MyVariant Identifiers: chr19:g.6713463A>C (hg19) chr19:g.6713452A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713452A>C , CM000681.2:g.6713452A>C GRCh38
NC_000019.9:g.6713463A>C , CM000681.1:g.6713463A>C GRCh37
NC_000019.8:g.6664463A>C NCBI36
NG_009557.1:g.12200T>G , LRG_27:g.12200T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.708T>G ENSP00000512083.1:p.Asp236Glu
ENST00000695692.1:n.155T>G
ENST00000245907.11:c.831T>G MANE Select ENSP00000245907.4:p.Asp277Glu
ENST00000245907.10:c.831T>G ENSP00000245907.4:p.Asp277Glu
ENST00000595577.1:n.335T>G
ENST00000597442.5:n.81T>G
NM_000064.3:c.831T>G NP_000055.2:p.Asp277Glu
NM_000064.4:c.831T>G MANE Select NP_000055.2:p.Asp277Glu
Search 100 bp 5'
Search 100 bp 3'