Canonical Allele Identifier: CA403633255

Gene: C3

Linked Data

• dbSNP Id: rs1199323072
• gnomAD v4: 19-6697499-G-A
• COSMIC: COSM1198763
• MyVariant Identifiers: chr19:g.6697510G>A (hg19) ; chr19:g.6697499G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697499G>A , CM000681.2:g.6697499G>A	GRCh38
NC_000019.9:g.6697510G>A , CM000681.1:g.6697510G>A	GRCh37
NC_000019.8:g.6648510G>A	NCBI36
NG_009557.1:g.28153C>T , LRG_27:g.28153C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.989C>T
ENST00000695652.1:c.2518C>T	ENSP00000512083.1:p.Arg840Cys
ENST00000695653.1:c.550C>T	ENSP00000512084.1:p.Arg184Cys
ENST00000695654.1:c.1765C>T	ENSP00000512085.1:p.Arg589Cys
ENST00000695655.1:c.1582C>T	ENSP00000512086.1:n.1582C>T
ENST00000695692.1:n.2005C>T
ENST00000245907.11:c.2641C>T MANE Select	ENSP00000245907.4:p.Arg881Cys
ENST00000245907.10:c.2641C>T	ENSP00000245907.4:p.Arg881Cys
ENST00000594005.1:n.217C>T
NM_000064.3:c.2641C>T	NP_000055.2:p.Arg881Cys
NM_000064.4:c.2641C>T MANE Select	NP_000055.2:p.Arg881Cys