Canonical Allele Identifier: CA9128981

Gene: C3

Linked Data

• dbSNP Id: rs423490
• ExAC: 19:6697406 A / C
• gnomAD v2: 19-6697406-A-C
• gnomAD v4: 19-6697395-A-C
• MyVariant Identifiers: chr19:g.6697406A>C (hg19) ; chr19:g.6697395A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697395A>C , CM000681.2:g.6697395A>C	GRCh38
NC_000019.9:g.6697406A>C , CM000681.1:g.6697406A>C	GRCh37
NC_000019.8:g.6648406A>C	NCBI36
NG_009557.1:g.28257T>G , LRG_27:g.28257T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1093T>G
ENST00000695652.1:c.2622T>G	ENSP00000512083.1:p.Ala874=
ENST00000695653.1:c.654T>G	ENSP00000512084.1:p.Ala218=
ENST00000695654.1:c.1869T>G	ENSP00000512085.1:p.Ala623=
ENST00000695655.1:c.1686T>G	ENSP00000512086.1:n.1686T>G
ENST00000695692.1:n.2109T>G
ENST00000245907.11:c.2745T>G MANE Select	ENSP00000245907.4:p.Ala915=
ENST00000245907.10:c.2745T>G	ENSP00000245907.4:p.Ala915=
ENST00000594005.1:n.321T>G
NM_000064.3:c.2745T>G	NP_000055.2:p.Ala915=
NM_000064.4:c.2745T>G MANE Select	NP_000055.2:p.Ala915=