Canonical Allele Identifier: CA304771959

Gene: C3

Linked Data

• dbSNP Id: rs975872660
• gnomAD v2: 19-6679885-G-C
• gnomAD v3: 19-6679874-G-C
• gnomAD v4: 19-6679874-G-C
• MyVariant Identifiers: chr19:g.6679885G>C (hg19) ; chr19:g.6679874G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679874G>C , CM000681.2:g.6679874G>C	GRCh38
NC_000019.9:g.6679885G>C , CM000681.1:g.6679885G>C	GRCh37
NC_000019.8:g.6630885G>C	NCBI36
NG_009557.1:g.45778C>G , LRG_27:g.45778C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2804+284C>G
ENST00000695653.1:c.2365+284C>G	ENSP00000512084.1:n.2365+284C>G
ENST00000695654.1:c.3481+284C>G	ENSP00000512085.1:n.3481+284C>G
ENST00000695689.1:c.427+284C>G	ENSP00000512101.1:n.427+284C>G
ENST00000695690.1:n.1521+284C>G
ENST00000695691.1:n.1317+284C>G
ENST00000245907.11:c.4456+284C>G MANE Select	ENSP00000245907.4:n.4456+284C>G
ENST00000245907.10:c.4456+284C>G	ENSP00000245907.4:n.4456+284C>G
ENST00000599668.1:n.51+227C>G
ENST00000599899.5:n.1415+284C>G
ENST00000601008.1:c.242-1916C>G	ENSP00000471384.1:n.242-1916C>G
NM_000064.3:c.4456+284C>G	NP_000055.2:n.4456+284C>G
NM_000064.4:c.4456+284C>G MANE Select	NP_000055.2:n.4456+284C>G