Canonical Allele Identifier: CA9129655
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1582087
ClinVar RCV Id: RCV002088751
dbSNP Id: rs189955020
ExAC: 19:6713460 G / A
gnomAD v2: 19-6713460-G-A
gnomAD v3: 19-6713449-G-A
gnomAD v4: 19-6713449-G-A
MyVariant Identifiers: chr19:g.6713460G>A (hg19) chr19:g.6713449G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713449G>A , CM000681.2:g.6713449G>A GRCh38
NC_000019.9:g.6713460G>A , CM000681.1:g.6713460G>A GRCh37
NC_000019.8:g.6664460G>A NCBI36
NG_009557.1:g.12203C>T , LRG_27:g.12203C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.711C>T ENSP00000512083.1:p.Gly237=
ENST00000695692.1:n.158C>T
ENST00000245907.11:c.834C>T MANE Select ENSP00000245907.4:p.Gly278=
ENST00000245907.10:c.834C>T ENSP00000245907.4:p.Gly278=
ENST00000595577.1:n.338C>T
ENST00000597442.5:n.84C>T
NM_000064.3:c.834C>T NP_000055.2:p.Gly278=
NM_000064.4:c.834C>T MANE Select NP_000055.2:p.Gly278=
Search 100 bp 5'
Search 100 bp 3'