Canonical Allele Identifier: CA9129614
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1582157
ClinVar RCV Id: RCV002111124
dbSNP Id: rs768273081
ExAC: 19:6713240 C / T
gnomAD v2: 19-6713240-C-T
gnomAD v3: 19-6713229-C-T
gnomAD v4: 19-6713229-C-T
MyVariant Identifiers: chr19:g.6713240C>T (hg19) chr19:g.6713229C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713229C>T , CM000681.2:g.6713229C>T GRCh38
NC_000019.9:g.6713240C>T , CM000681.1:g.6713240C>T GRCh37
NC_000019.8:g.6664240C>T NCBI36
NG_009557.1:g.12423G>A , LRG_27:g.12423G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.840G>A ENSP00000512083.1:p.Gly280=
ENST00000695654.1:c.87G>A ENSP00000512085.1:p.Gly29=
ENST00000695692.1:n.287G>A
ENST00000245907.11:c.963G>A MANE Select ENSP00000245907.4:p.Gly321=
ENST00000245907.10:c.963G>A ENSP00000245907.4:p.Gly321=
ENST00000594270.5:n.87G>A
ENST00000595577.1:n.467G>A
ENST00000597442.5:n.213G>A
NM_000064.3:c.963G>A NP_000055.2:p.Gly321=
NM_000064.4:c.963G>A MANE Select NP_000055.2:p.Gly321=
Search 100 bp 5'
Search 100 bp 3'