Canonical Allele Identifier: CA9128438

Gene: C3

Linked Data

• ClinVar Variation Id: 1484694
• ClinVar RCV Id: RCV002038131
• dbSNP Id: rs772034590
• ExAC: 19:6681984 C / T
• gnomAD v2: 19-6681984-C-T
• gnomAD v4: 19-6681973-C-T
• MyVariant Identifiers: chr19:g.6681984C>T (hg19) ; chr19:g.6681973C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6681973C>T , CM000681.2:g.6681973C>T	GRCh38
NC_000019.9:g.6681984C>T , CM000681.1:g.6681984C>T	GRCh37
NC_000019.8:g.6632984C>T	NCBI36
NG_009557.1:g.43679G>A , LRG_27:g.43679G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2666G>A
ENST00000695653.1:c.2227G>A	ENSP00000512084.1:p.Asp743Asn
ENST00000695654.1:c.3343G>A	ENSP00000512085.1:p.Asp1115Asn
ENST00000695689.1:c.289G>A	ENSP00000512101.1:n.289G>A
ENST00000695690.1:n.509G>A
ENST00000695691.1:n.509G>A
ENST00000245907.11:c.4318G>A MANE Select	ENSP00000245907.4:p.Asp1440Asn
ENST00000245907.10:c.4318G>A	ENSP00000245907.4:p.Asp1440Asn
ENST00000596548.1:c.439G>A	ENSP00000469744.1:p.Asp147Asn
ENST00000599899.5:n.1277G>A
ENST00000601008.1:c.242-4015G>A	ENSP00000471384.1:n.242-4015G>A
NM_000064.3:c.4318G>A	NP_000055.2:p.Asp1440Asn
NM_000064.4:c.4318G>A MANE Select	NP_000055.2:p.Asp1440Asn