Canonical Allele Identifier: CA304794584
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1378200
ClinVar RCV Id: RCV001881022
dbSNP Id: rs539270017
gnomAD v3: 19-6709812-G-A
gnomAD v4: 19-6709812-G-A
MyVariant Identifiers: chr19:g.6709823G>A (hg19) chr19:g.6709812G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709812G>A , CM000681.2:g.6709812G>A GRCh38
NC_000019.9:g.6709823G>A , CM000681.1:g.6709823G>A GRCh37
NC_000019.8:g.6660823G>A NCBI36
NG_009557.1:g.15840C>T , LRG_27:g.15840C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1594C>T ENSP00000512083.1:p.Arg532Trp
ENST00000695654.1:c.841C>T ENSP00000512085.1:p.Arg281Trp
ENST00000695655.1:c.658C>T ENSP00000512086.1:n.658C>T
ENST00000695692.1:n.1081C>T
ENST00000245907.11:c.1717C>T MANE Select ENSP00000245907.4:p.Arg573Trp
ENST00000245907.10:c.1717C>T ENSP00000245907.4:p.Arg573Trp
ENST00000600763.1:n.350C>T
NM_000064.3:c.1717C>T NP_000055.2:p.Arg573Trp
NM_000064.4:c.1717C>T MANE Select NP_000055.2:p.Arg573Trp
Search 100 bp 5'
Search 100 bp 3'