Canonical Allele Identifier: CA9129327

Gene: C3

Linked Data

• dbSNP Id: rs779654263
• ExAC: 19:6709713 G / T
• gnomAD v2: 19-6709713-G-T
• gnomAD v4: 19-6709702-G-T
• MyVariant Identifiers: chr19:g.6709713G>T (hg19) ; chr19:g.6709702G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709702G>T , CM000681.2:g.6709702G>T	GRCh38
NC_000019.9:g.6709713G>T , CM000681.1:g.6709713G>T	GRCh37
NC_000019.8:g.6660713G>T	NCBI36
NG_009557.1:g.15950C>A , LRG_27:g.15950C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1704C>A	ENSP00000512083.1:p.Asn568Lys
ENST00000695654.1:c.951C>A	ENSP00000512085.1:p.Asn317Lys
ENST00000695655.1:c.768C>A	ENSP00000512086.1:n.768C>A
ENST00000695692.1:n.1191C>A
ENST00000245907.11:c.1827C>A MANE Select	ENSP00000245907.4:p.Asn609Lys
ENST00000245907.10:c.1827C>A	ENSP00000245907.4:p.Asn609Lys
NM_000064.3:c.1827C>A	NP_000055.2:p.Asn609Lys
NM_000064.4:c.1827C>A MANE Select	NP_000055.2:p.Asn609Lys