Canonical Allele Identifier: CA403643637
Gene: C3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.6714445T>G (hg19) chr19:g.6714434T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714434T>G , CM000681.2:g.6714434T>G GRCh38
NC_000019.9:g.6714445T>G , CM000681.1:g.6714445T>G GRCh37
NC_000019.8:g.6665445T>G NCBI36
NG_009557.1:g.11218A>C , LRG_27:g.11218A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.394A>C ENSP00000512083.1:p.Ile132Leu
ENST00000245907.11:c.517A>C MANE Select ENSP00000245907.4:p.Ile173Leu
ENST00000245907.10:c.517A>C ENSP00000245907.4:p.Ile173Leu
NM_000064.3:c.517A>C NP_000055.2:p.Ile173Leu
NM_000064.4:c.517A>C MANE Select NP_000055.2:p.Ile173Leu
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