Canonical Allele Identifier: CA403619475

Gene: C3

Linked Data

• dbSNP Id: rs1253193143
• gnomAD v2: 19-6686168-C-G
• gnomAD v4: 19-6686157-C-G
• MyVariant Identifiers: chr19:g.6686168C>G (hg19) ; chr19:g.6686157C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686157C>G , CM000681.2:g.6686157C>G	GRCh38
NC_000019.9:g.6686168C>G , CM000681.1:g.6686168C>G	GRCh37
NC_000019.8:g.6637168C>G	NCBI36
NG_009557.1:g.39495G>C , LRG_27:g.39495G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2125G>C
ENST00000695652.1:c.3654G>C	ENSP00000512083.1:p.Gln1218His
ENST00000695653.1:c.1686G>C	ENSP00000512084.1:p.Gln562His
ENST00000695654.1:c.2802G>C	ENSP00000512085.1:p.Gln934His
ENST00000695655.1:c.2718G>C	ENSP00000512086.1:n.2718G>C
ENST00000695692.1:n.3141G>C
ENST00000245907.11:c.3777G>C MANE Select	ENSP00000245907.4:p.Gln1259His
ENST00000245907.10:c.3777G>C	ENSP00000245907.4:p.Gln1259His
ENST00000596238.1:n.220G>C
ENST00000601008.1:c.241+589G>C	ENSP00000471384.1:n.241+589G>C
NM_000064.3:c.3777G>C	NP_000055.2:p.Gln1259His
NM_000064.4:c.3777G>C MANE Select	NP_000055.2:p.Gln1259His