Canonical Allele Identifier: CA403619917

Gene: C3

Linked Data

• ClinVar Variation Id: 1934224
• ClinVar RCV Id: RCV002631779
• dbSNP Id: rs1327111445
• gnomAD v3: 19-6686237-T-G
• gnomAD v4: 19-6686237-T-G
• MyVariant Identifiers: chr19:g.6686248T>G (hg19) ; chr19:g.6686237T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686237T>G , CM000681.2:g.6686237T>G	GRCh38
NC_000019.9:g.6686248T>G , CM000681.1:g.6686248T>G	GRCh37
NC_000019.8:g.6637248T>G	NCBI36
NG_009557.1:g.39415A>C , LRG_27:g.39415A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2045A>C
ENST00000695652.1:c.3574A>C	ENSP00000512083.1:p.Thr1192Pro
ENST00000695653.1:c.1606A>C	ENSP00000512084.1:p.Thr536Pro
ENST00000695654.1:c.2722A>C	ENSP00000512085.1:p.Thr908Pro
ENST00000695655.1:c.2638A>C	ENSP00000512086.1:n.2638A>C
ENST00000695692.1:n.3061A>C
ENST00000245907.11:c.3697A>C MANE Select	ENSP00000245907.4:p.Thr1233Pro
ENST00000245907.10:c.3697A>C	ENSP00000245907.4:p.Thr1233Pro
ENST00000596238.1:n.140A>C
ENST00000601008.1:c.241+509A>C	ENSP00000471384.1:n.241+509A>C
NM_000064.3:c.3697A>C	NP_000055.2:p.Thr1233Pro
NM_000064.4:c.3697A>C MANE Select	NP_000055.2:p.Thr1233Pro