Canonical Allele Identifier: CA9129781
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs755070575
ExAC: 19:6714438 A / G
gnomAD v4: 19-6714427-A-G
MyVariant Identifiers: chr19:g.6714438A>G (hg19) chr19:g.6714427A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714427A>G , CM000681.2:g.6714427A>G GRCh38
NC_000019.9:g.6714438A>G , CM000681.1:g.6714438A>G GRCh37
NC_000019.8:g.6665438A>G NCBI36
NG_009557.1:g.11225T>C , LRG_27:g.11225T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.401T>C ENSP00000512083.1:p.Val134Ala
ENST00000245907.11:c.524T>C MANE Select ENSP00000245907.4:p.Val175Ala
ENST00000245907.10:c.524T>C ENSP00000245907.4:p.Val175Ala
NM_000064.3:c.524T>C NP_000055.2:p.Val175Ala
NM_000064.4:c.524T>C MANE Select NP_000055.2:p.Val175Ala
Search 100 bp 5'
Search 100 bp 3'