Canonical Allele Identifier: CA403618162

Gene: C3

Linked Data

• ClinVar Variation Id: 2711438
• ClinVar RCV Id: RCV003545307
• gnomAD v4: 19-6684986-A-G
• MyVariant Identifiers: chr19:g.6684997A>G (hg19) ; chr19:g.6684986A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6684986A>G , CM000681.2:g.6684986A>G	GRCh38
NC_000019.9:g.6684997A>G , CM000681.1:g.6684997A>G	GRCh37
NC_000019.8:g.6635997A>G	NCBI36
NG_009557.1:g.40666T>C , LRG_27:g.40666T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2317+2T>C
ENST00000695653.1:c.1878+2T>C	ENSP00000512084.1:n.1878+2T>C
ENST00000695654.1:c.2994+2T>C	ENSP00000512085.1:n.2994+2T>C
ENST00000695690.1:n.160+2T>C
ENST00000695691.1:n.160+2T>C
ENST00000245907.11:c.3969+2T>C MANE Select	ENSP00000245907.4:n.3969+2T>C
ENST00000245907.10:c.3969+2T>C	ENSP00000245907.4:n.3969+2T>C
ENST00000596238.1:n.412+2T>C
ENST00000596548.1:c.51+2T>C	ENSP00000469744.1:n.51+2T>C
ENST00000601008.1:c.241+1760T>C	ENSP00000471384.1:n.241+1760T>C
NM_000064.3:c.3969+2T>C	NP_000055.2:n.3969+2T>C
NM_000064.4:c.3969+2T>C MANE Select	NP_000055.2:n.3969+2T>C