Canonical Allele Identifier: CA9129709
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs765036577
ExAC: 19:6714089 C / T
gnomAD v2: 19-6714089-C-T
gnomAD v4: 19-6714078-C-T
MyVariant Identifiers: chr19:g.6714089C>T (hg19) chr19:g.6714078C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714078C>T , CM000681.2:g.6714078C>T GRCh38
NC_000019.9:g.6714089C>T , CM000681.1:g.6714089C>T GRCh37
NC_000019.8:g.6665089C>T NCBI36
NG_009557.1:g.11574G>A , LRG_27:g.11574G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.564G>A ENSP00000512083.1:p.Leu188=
ENST00000245907.11:c.687G>A MANE Select ENSP00000245907.4:p.Leu229=
ENST00000245907.10:c.687G>A ENSP00000245907.4:p.Leu229=
ENST00000595577.1:n.191G>A
NM_000064.3:c.687G>A NP_000055.2:p.Leu229=
NM_000064.4:c.687G>A MANE Select NP_000055.2:p.Leu229=
Search 100 bp 5'
Search 100 bp 3'