Canonical Allele Identifier: CA9129012

Gene: C3

Linked Data

• dbSNP Id: rs760682887
• ExAC: 19:6697511 C / A
• gnomAD v2: 19-6697511-C-A
• gnomAD v4: 19-6697500-C-A
• MyVariant Identifiers: chr19:g.6697511C>A (hg19) ; chr19:g.6697500C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697500C>A , CM000681.2:g.6697500C>A	GRCh38
NC_000019.9:g.6697511C>A , CM000681.1:g.6697511C>A	GRCh37
NC_000019.8:g.6648511C>A	NCBI36
NG_009557.1:g.28152G>T , LRG_27:g.28152G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.988G>T
ENST00000695652.1:c.2517G>T	ENSP00000512083.1:p.Arg839Ser
ENST00000695653.1:c.549G>T	ENSP00000512084.1:p.Arg183Ser
ENST00000695654.1:c.1764G>T	ENSP00000512085.1:p.Arg588Ser
ENST00000695655.1:c.1581G>T	ENSP00000512086.1:n.1581G>T
ENST00000695692.1:n.2004G>T
ENST00000245907.11:c.2640G>T MANE Select	ENSP00000245907.4:p.Arg880Ser
ENST00000245907.10:c.2640G>T	ENSP00000245907.4:p.Arg880Ser
ENST00000594005.1:n.216G>T
NM_000064.3:c.2640G>T	NP_000055.2:p.Arg880Ser
NM_000064.4:c.2640G>T MANE Select	NP_000055.2:p.Arg880Ser