Canonical Allele Identifier: CA505193146
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6713313-A-G
MyVariant Identifiers: chr19:g.6713324A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713313A>G , CM000681.2:g.6713313A>G GRCh38
NC_000019.9:g.6713324A>G , CM000681.1:g.6713324A>G GRCh37
NC_000019.8:g.6664324A>G NCBI36
NG_009557.1:g.12339T>C , LRG_27:g.12339T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.756T>C ENSP00000512083.1:p.Ile252=
ENST00000695654.1:c.3T>C ENSP00000512085.1:p.Ile1=
ENST00000695692.1:n.203T>C
ENST00000245907.11:c.879T>C MANE Select ENSP00000245907.4:p.Ile293=
ENST00000245907.10:c.879T>C ENSP00000245907.4:p.Ile293=
ENST00000594270.5:n.3T>C
ENST00000595577.1:n.383T>C
ENST00000597442.5:n.129T>C
NM_000064.3:c.879T>C NP_000055.2:p.Ile293=
NM_000064.4:c.879T>C MANE Select NP_000055.2:p.Ile293=
Search 100 bp 5'
Search 100 bp 3'