Canonical Allele Identifier: CA403620185

Gene: C3

Linked Data

• dbSNP Id: rs1206561035
• gnomAD v2: 19-6686281-C-T
• gnomAD v4: 19-6686270-C-T
• MyVariant Identifiers: chr19:g.6686281C>T (hg19) ; chr19:g.6686270C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686270C>T , CM000681.2:g.6686270C>T	GRCh38
NC_000019.9:g.6686281C>T , CM000681.1:g.6686281C>T	GRCh37
NC_000019.8:g.6637281C>T	NCBI36
NG_009557.1:g.39382G>A , LRG_27:g.39382G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2012G>A
ENST00000695652.1:c.3541G>A	ENSP00000512083.1:p.Asp1181Asn
ENST00000695653.1:c.1573G>A	ENSP00000512084.1:p.Asp525Asn
ENST00000695654.1:c.2689G>A	ENSP00000512085.1:p.Asp897Asn
ENST00000695655.1:c.2605G>A	ENSP00000512086.1:n.2605G>A
ENST00000695692.1:n.3028G>A
ENST00000245907.11:c.3664G>A MANE Select	ENSP00000245907.4:p.Asp1222Asn
ENST00000245907.10:c.3664G>A	ENSP00000245907.4:p.Asp1222Asn
ENST00000596238.1:n.107G>A
ENST00000601008.1:c.241+476G>A	ENSP00000471384.1:n.241+476G>A
NM_000064.3:c.3664G>A	NP_000055.2:p.Asp1222Asn
NM_000064.4:c.3664G>A MANE Select	NP_000055.2:p.Asp1222Asn