Canonical Allele Identifier: CA304774913

Gene: C3

Linked Data

• dbSNP Id: rs1008226487
• gnomAD v2: 19-6684936-T-C
• gnomAD v3: 19-6684925-T-C
• gnomAD v4: 19-6684925-T-C
• MyVariant Identifiers: chr19:g.6684936T>C (hg19) ; chr19:g.6684925T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6684925T>C , CM000681.2:g.6684925T>C	GRCh38
NC_000019.9:g.6684936T>C , CM000681.1:g.6684936T>C	GRCh37
NC_000019.8:g.6635936T>C	NCBI36
NG_009557.1:g.40727A>G , LRG_27:g.40727A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2317+63A>G
ENST00000695653.1:c.1878+63A>G	ENSP00000512084.1:n.1878+63A>G
ENST00000695654.1:c.2994+63A>G	ENSP00000512085.1:n.2994+63A>G
ENST00000695690.1:n.160+63A>G
ENST00000695691.1:n.160+63A>G
ENST00000245907.11:c.3969+63A>G MANE Select	ENSP00000245907.4:n.3969+63A>G
ENST00000245907.10:c.3969+63A>G	ENSP00000245907.4:n.3969+63A>G
ENST00000596238.1:n.412+63A>G
ENST00000596548.1:c.51+63A>G	ENSP00000469744.1:n.51+63A>G
ENST00000601008.1:c.241+1821A>G	ENSP00000471384.1:n.241+1821A>G
NM_000064.3:c.3969+63A>G	NP_000055.2:n.3969+63A>G
NM_000064.4:c.3969+63A>G MANE Select	NP_000055.2:n.3969+63A>G