Canonical Allele Identifier: CA9128728

Gene: C3

Linked Data

• dbSNP Id: rs760685575
• ExAC: 19:6690679 C / T
• gnomAD v2: 19-6690679-C-T
• gnomAD v4: 19-6690668-C-T
• MyVariant Identifiers: chr19:g.6690679C>T (hg19) ; chr19:g.6690668C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6690668C>T , CM000681.2:g.6690668C>T	GRCh38
NC_000019.9:g.6690679C>T , CM000681.1:g.6690679C>T	GRCh37
NC_000019.8:g.6641679C>T	NCBI36
NG_009557.1:g.34984G>A , LRG_27:g.34984G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.1798G>A
ENST00000695652.1:c.3327G>A	ENSP00000512083.1:p.Ser1109=
ENST00000695653.1:c.1359G>A	ENSP00000512084.1:p.Ser453=
ENST00000695654.1:c.2514+2256G>A	ENSP00000512085.1:n.2514+2256G>A
ENST00000695655.1:c.2391G>A	ENSP00000512086.1:n.2391G>A
ENST00000695692.1:n.2814G>A
ENST00000245907.11:c.3450G>A MANE Select	ENSP00000245907.4:p.Ser1150=
ENST00000245907.10:c.3450G>A	ENSP00000245907.4:p.Ser1150=
ENST00000598805.2:n.220G>A
ENST00000601008.1:c.45G>A	ENSP00000471384.1:p.Ser15=
NM_000064.3:c.3450G>A	NP_000055.2:p.Ser1150=
NM_000064.4:c.3450G>A MANE Select	NP_000055.2:p.Ser1150=