Canonical Allele Identifier: CA9129739
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1362671
ClinVar RCV Id: RCV001934532
dbSNP Id: rs537531577
ExAC: 19:6714195 A / T
gnomAD v2: 19-6714195-A-T
gnomAD v3: 19-6714184-A-T
gnomAD v4: 19-6714184-A-T
MyVariant Identifiers: chr19:g.6714195A>T (hg19) chr19:g.6714184A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714184A>T , CM000681.2:g.6714184A>T GRCh38
NC_000019.9:g.6714195A>T , CM000681.1:g.6714195A>T GRCh37
NC_000019.8:g.6665195A>T NCBI36
NG_009557.1:g.11468T>A , LRG_27:g.11468T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.541T>A ENSP00000512083.1:p.Phe181Ile
ENST00000245907.11:c.664T>A MANE Select ENSP00000245907.4:p.Phe222Ile
ENST00000245907.10:c.664T>A ENSP00000245907.4:p.Phe222Ile
ENST00000595577.1:n.168T>A
NM_000064.3:c.664T>A NP_000055.2:p.Phe222Ile
NM_000064.4:c.664T>A MANE Select NP_000055.2:p.Phe222Ile
Search 100 bp 5'
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