Canonical Allele Identifier: CA304786134

Gene: C3

Linked Data

• ClinVar Variation Id: 893863
• ClinVar RCV Id: RCV001133007 ; RCV001136440 ; RCV001136441
• dbSNP Id: rs377316231
• gnomAD v3: 19-6697494-G-A
• gnomAD v4: 19-6697494-G-A
• MyVariant Identifiers: chr19:g.6697505G>A (hg19) ; chr19:g.6697494G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697494G>A , CM000681.2:g.6697494G>A	GRCh38
NC_000019.9:g.6697505G>A , CM000681.1:g.6697505G>A	GRCh37
NC_000019.8:g.6648505G>A	NCBI36
NG_009557.1:g.28158C>T , LRG_27:g.28158C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.994C>T
ENST00000695652.1:c.2523C>T	ENSP00000512083.1:p.His841=
ENST00000695653.1:c.555C>T	ENSP00000512084.1:p.His185=
ENST00000695654.1:c.1770C>T	ENSP00000512085.1:p.His590=
ENST00000695655.1:c.1587C>T	ENSP00000512086.1:n.1587C>T
ENST00000695692.1:n.2010C>T
ENST00000245907.11:c.2646C>T MANE Select	ENSP00000245907.4:p.His882=
ENST00000245907.10:c.2646C>T	ENSP00000245907.4:p.His882=
ENST00000594005.1:n.222C>T
NM_000064.3:c.2646C>T	NP_000055.2:p.His882=
NM_000064.4:c.2646C>T MANE Select	NP_000055.2:p.His882=