Canonical Allele Identifier: CA9129659
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs775974686
ExAC: 19:6713487 G / T
gnomAD v2: 19-6713487-G-T
gnomAD v4: 19-6713476-G-T
MyVariant Identifiers: chr19:g.6713487G>T (hg19) chr19:g.6713476G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713476G>T , CM000681.2:g.6713476G>T GRCh38
NC_000019.9:g.6713487G>T , CM000681.1:g.6713487G>T GRCh37
NC_000019.8:g.6664487G>T NCBI36
NG_009557.1:g.12176C>A , LRG_27:g.12176C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.684C>A ENSP00000512083.1:p.Ala228=
ENST00000695692.1:n.131C>A
ENST00000245907.11:c.807C>A MANE Select ENSP00000245907.4:p.Ala269=
ENST00000245907.10:c.807C>A ENSP00000245907.4:p.Ala269=
ENST00000595577.1:n.311C>A
ENST00000597442.5:n.57C>A
NM_000064.3:c.807C>A NP_000055.2:p.Ala269=
NM_000064.4:c.807C>A MANE Select NP_000055.2:p.Ala269=
Search 100 bp 5'
Search 100 bp 3'