Canonical Allele Identifier: CA9129714

Gene: C3

Linked Data

• ClinVar Variation Id: 2959396
• ClinVar RCV Id: RCV003819595
• dbSNP Id: rs754478123
• ExAC: 19:6714110 G / A
• gnomAD v2: 19-6714110-G-A
• gnomAD v3: 19-6714099-G-A
• gnomAD v4: 19-6714099-G-A
• MyVariant Identifiers: chr19:g.6714110G>A (hg19) ; chr19:g.6714099G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6714099G>A , CM000681.2:g.6714099G>A	GRCh38
NC_000019.9:g.6714110G>A , CM000681.1:g.6714110G>A	GRCh37
NC_000019.8:g.6665110G>A	NCBI36
NG_009557.1:g.11553C>T , LRG_27:g.11553C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.560-17C>T	ENSP00000512083.1:n.560-17C>T
ENST00000245907.11:c.683-17C>T MANE Select	ENSP00000245907.4:n.683-17C>T
ENST00000245907.10:c.683-17C>T	ENSP00000245907.4:n.683-17C>T
ENST00000595577.1:n.187-17C>T
NM_000064.3:c.683-17C>T	NP_000055.2:n.683-17C>T
NM_000064.4:c.683-17C>T MANE Select	NP_000055.2:n.683-17C>T