Canonical Allele Identifier: CA9128658

Gene: C3

Linked Data

• dbSNP Id: rs780946376
• ExAC: 19:6686246 T / G
• gnomAD v2: 19-6686246-T-G
• gnomAD v4: 19-6686235-T-G
• MyVariant Identifiers: chr19:g.6686246T>G (hg19) ; chr19:g.6686235T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686235T>G , CM000681.2:g.6686235T>G	GRCh38
NC_000019.9:g.6686246T>G , CM000681.1:g.6686246T>G	GRCh37
NC_000019.8:g.6637246T>G	NCBI36
NG_009557.1:g.39417A>C , LRG_27:g.39417A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2047A>C
ENST00000695652.1:c.3576A>C	ENSP00000512083.1:p.Thr1192=
ENST00000695653.1:c.1608A>C	ENSP00000512084.1:p.Thr536=
ENST00000695654.1:c.2724A>C	ENSP00000512085.1:p.Thr908=
ENST00000695655.1:c.2640A>C	ENSP00000512086.1:n.2640A>C
ENST00000695692.1:n.3063A>C
ENST00000245907.11:c.3699A>C MANE Select	ENSP00000245907.4:p.Thr1233=
ENST00000245907.10:c.3699A>C	ENSP00000245907.4:p.Thr1233=
ENST00000596238.1:n.142A>C
ENST00000601008.1:c.241+511A>C	ENSP00000471384.1:n.241+511A>C
NM_000064.3:c.3699A>C	NP_000055.2:p.Thr1233=
NM_000064.4:c.3699A>C MANE Select	NP_000055.2:p.Thr1233=