Canonical Allele Identifier: CA9128655

Gene: C3

Linked Data

• dbSNP Id: rs761343669
• ExAC: 19:6686230 C / T
• gnomAD v2: 19-6686230-C-T
• gnomAD v4: 19-6686219-C-T
• MyVariant Identifiers: chr19:g.6686230C>T (hg19) ; chr19:g.6686219C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686219C>T , CM000681.2:g.6686219C>T	GRCh38
NC_000019.9:g.6686230C>T , CM000681.1:g.6686230C>T	GRCh37
NC_000019.8:g.6637230C>T	NCBI36
NG_009557.1:g.39433G>A , LRG_27:g.39433G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2063G>A
ENST00000695652.1:c.3592G>A	ENSP00000512083.1:p.Ala1198Thr
ENST00000695653.1:c.1624G>A	ENSP00000512084.1:p.Ala542Thr
ENST00000695654.1:c.2740G>A	ENSP00000512085.1:p.Ala914Thr
ENST00000695655.1:c.2656G>A	ENSP00000512086.1:n.2656G>A
ENST00000695692.1:n.3079G>A
ENST00000245907.11:c.3715G>A MANE Select	ENSP00000245907.4:p.Ala1239Thr
ENST00000245907.10:c.3715G>A	ENSP00000245907.4:p.Ala1239Thr
ENST00000596238.1:n.158G>A
ENST00000601008.1:c.241+527G>A	ENSP00000471384.1:n.241+527G>A
NM_000064.3:c.3715G>A	NP_000055.2:p.Ala1239Thr
NM_000064.4:c.3715G>A MANE Select	NP_000055.2:p.Ala1239Thr