Canonical Allele Identifier: CA9129777
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1646578
ClinVar RCV Id: RCV002151203
dbSNP Id: rs750854072
ExAC: 19:6714401 G / A
gnomAD v2: 19-6714401-G-A
gnomAD v3: 19-6714390-G-A
gnomAD v4: 19-6714390-G-A
MyVariant Identifiers: chr19:g.6714401G>A (hg19) chr19:g.6714390G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714390G>A , CM000681.2:g.6714390G>A GRCh38
NC_000019.9:g.6714401G>A , CM000681.1:g.6714401G>A GRCh37
NC_000019.8:g.6665401G>A NCBI36
NG_009557.1:g.11262C>T , LRG_27:g.11262C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.438C>T ENSP00000512083.1:p.Gly146=
ENST00000245907.11:c.561C>T MANE Select ENSP00000245907.4:p.Gly187=
ENST00000245907.10:c.561C>T ENSP00000245907.4:p.Gly187=
NM_000064.3:c.561C>T NP_000055.2:p.Gly187=
NM_000064.4:c.561C>T MANE Select NP_000055.2:p.Gly187=
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Search 100 bp 3'