Canonical Allele Identifier: CA9128564

Gene: C3

Linked Data

• dbSNP Id: rs756603380
• ExAC: 19:6684863 A / T
• gnomAD v2: 19-6684863-A-T
• gnomAD v4: 19-6684852-A-T
• MyVariant Identifiers: chr19:g.6684863A>T (hg19) ; chr19:g.6684852A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6684852A>T , CM000681.2:g.6684852A>T	GRCh38
NC_000019.9:g.6684863A>T , CM000681.1:g.6684863A>T	GRCh37
NC_000019.8:g.6635863A>T	NCBI36
NG_009557.1:g.40800T>A , LRG_27:g.40800T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2318-18T>A
ENST00000695653.1:c.1879-18T>A	ENSP00000512084.1:n.1879-18T>A
ENST00000695654.1:c.2995-18T>A	ENSP00000512085.1:n.2995-18T>A
ENST00000695690.1:n.161-18T>A
ENST00000695691.1:n.161-18T>A
ENST00000245907.11:c.3970-18T>A MANE Select	ENSP00000245907.4:n.3970-18T>A
ENST00000245907.10:c.3970-18T>A	ENSP00000245907.4:n.3970-18T>A
ENST00000596238.1:n.413-18T>A
ENST00000596548.1:c.52-18T>A	ENSP00000469744.1:n.52-18T>A
ENST00000601008.1:c.241+1894T>A	ENSP00000471384.1:n.241+1894T>A
NM_000064.3:c.3970-18T>A	NP_000055.2:n.3970-18T>A
NM_000064.4:c.3970-18T>A MANE Select	NP_000055.2:n.3970-18T>A