Canonical Allele Identifier: CA9129842
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1928749
ClinVar RCV Id: RCV002614677
dbSNP Id: rs552130054
ExAC: 19:6718350 G / A
gnomAD v2: 19-6718350-G-A
gnomAD v3: 19-6718339-G-A
gnomAD v4: 19-6718339-G-A
MyVariant Identifiers: chr19:g.6718350G>A (hg19) chr19:g.6718339G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6718339G>A , CM000681.2:g.6718339G>A GRCh38
NC_000019.9:g.6718350G>A , CM000681.1:g.6718350G>A GRCh37
NC_000019.8:g.6669350G>A NCBI36
NG_009557.1:g.7313C>T , LRG_27:g.7313C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000594936.2:n.402C>T
ENST00000695652.1:c.218C>T ENSP00000512083.1:p.Thr73Ile
ENST00000695693.1:c.341C>T ENSP00000512104.1:p.Thr114Ile
ENST00000245907.11:c.341C>T MANE Select ENSP00000245907.4:p.Thr114Ile
ENST00000245907.10:c.341C>T ENSP00000245907.4:p.Thr114Ile
ENST00000594936.1:n.402C>T
ENST00000600744.1:c.218C>T ENSP00000472044.1:p.Thr73Ile
NM_000064.3:c.341C>T NP_000055.2:p.Thr114Ile
NM_000064.4:c.341C>T MANE Select NP_000055.2:p.Thr114Ile
Search 100 bp 5'
Search 100 bp 3'