Canonical Allele Identifier: CA505123971

Gene: C3

Linked Data

• dbSNP Id: rs1481406401
• gnomAD v2: 19-6690673-C-T
• gnomAD v3: 19-6690662-C-T
• gnomAD v4: 19-6690662-C-T
• COSMIC: COSM5527747
• MyVariant Identifiers: chr19:g.6690673C>T (hg19) ; chr19:g.6690662C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6690662C>T , CM000681.2:g.6690662C>T	GRCh38
NC_000019.9:g.6690673C>T , CM000681.1:g.6690673C>T	GRCh37
NC_000019.8:g.6641673C>T	NCBI36
NG_009557.1:g.34990G>A , LRG_27:g.34990G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.1804G>A
ENST00000695652.1:c.3333G>A	ENSP00000512083.1:p.Gln1111=
ENST00000695653.1:c.1365G>A	ENSP00000512084.1:p.Gln455=
ENST00000695654.1:c.2514+2262G>A	ENSP00000512085.1:n.2514+2262G>A
ENST00000695655.1:c.2397G>A	ENSP00000512086.1:n.2397G>A
ENST00000695692.1:n.2820G>A
ENST00000245907.11:c.3456G>A MANE Select	ENSP00000245907.4:p.Gln1152=
ENST00000245907.10:c.3456G>A	ENSP00000245907.4:p.Gln1152=
ENST00000598805.2:n.226G>A
ENST00000601008.1:c.51G>A	ENSP00000471384.1:p.Gln17=
NM_000064.3:c.3456G>A	NP_000055.2:p.Gln1152=
NM_000064.4:c.3456G>A MANE Select	NP_000055.2:p.Gln1152=