Canonical Allele Identifier: CA403619444

Gene: C3

Linked Data

• gnomAD v4: 19-6686150-A-T
• MyVariant Identifiers: chr19:g.6686161A>T (hg19) ; chr19:g.6686150A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686150A>T , CM000681.2:g.6686150A>T	GRCh38
NC_000019.9:g.6686161A>T , CM000681.1:g.6686161A>T	GRCh37
NC_000019.8:g.6637161A>T	NCBI36
NG_009557.1:g.39502T>A , LRG_27:g.39502T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2132T>A
ENST00000695652.1:c.3661T>A	ENSP00000512083.1:p.Tyr1221Asn
ENST00000695653.1:c.1693T>A	ENSP00000512084.1:p.Tyr565Asn
ENST00000695654.1:c.2809T>A	ENSP00000512085.1:p.Tyr937Asn
ENST00000695655.1:c.2725T>A	ENSP00000512086.1:n.2725T>A
ENST00000695692.1:n.3148T>A
ENST00000245907.11:c.3784T>A MANE Select	ENSP00000245907.4:p.Tyr1262Asn
ENST00000245907.10:c.3784T>A	ENSP00000245907.4:p.Tyr1262Asn
ENST00000596238.1:n.227T>A
ENST00000601008.1:c.241+596T>A	ENSP00000471384.1:n.241+596T>A
NM_000064.3:c.3784T>A	NP_000055.2:p.Tyr1262Asn
NM_000064.4:c.3784T>A MANE Select	NP_000055.2:p.Tyr1262Asn