Canonical Allele Identifier: CA505192232

Gene: C3

Linked Data

• dbSNP Id: rs2145411542
• gnomAD v4: 19-6697359-C-T
• MyVariant Identifiers: chr19:g.6697370C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697359C>T , CM000681.2:g.6697359C>T	GRCh38
NC_000019.9:g.6697370C>T , CM000681.1:g.6697370C>T	GRCh37
NC_000019.8:g.6648370C>T	NCBI36
NG_009557.1:g.28293G>A , LRG_27:g.28293G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1129G>A
ENST00000695652.1:c.2658G>A	ENSP00000512083.1:p.Lys886=
ENST00000695653.1:c.690G>A	ENSP00000512084.1:p.Lys230=
ENST00000695654.1:c.1905G>A	ENSP00000512085.1:p.Lys635=
ENST00000695655.1:c.1722G>A	ENSP00000512086.1:n.1722G>A
ENST00000695692.1:n.2145G>A
ENST00000245907.11:c.2781G>A MANE Select	ENSP00000245907.4:p.Lys927=
ENST00000245907.10:c.2781G>A	ENSP00000245907.4:p.Lys927=
ENST00000594005.1:n.357G>A
NM_000064.3:c.2781G>A	NP_000055.2:p.Lys927=
NM_000064.4:c.2781G>A MANE Select	NP_000055.2:p.Lys927=