Canonical Allele Identifier: CA403633921

Gene: C3

Linked Data

• dbSNP Id: rs749656023
• MyVariant Identifiers: chr19:g.6697714C>G (hg19) ; chr19:g.6697703C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697703C>G , CM000681.2:g.6697703C>G	GRCh38
NC_000019.9:g.6697714C>G , CM000681.1:g.6697714C>G	GRCh37
NC_000019.8:g.6648714C>G	NCBI36
NG_009557.1:g.27949G>C , LRG_27:g.27949G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.880G>C
ENST00000695652.1:c.2409G>C	ENSP00000512083.1:p.Gln803His
ENST00000695653.1:c.441G>C	ENSP00000512084.1:p.Gln147His
ENST00000695654.1:c.1656G>C	ENSP00000512085.1:p.Gln552His
ENST00000695655.1:c.1473G>C	ENSP00000512086.1:n.1473G>C
ENST00000695692.1:n.1896G>C
ENST00000245907.11:c.2532G>C MANE Select	ENSP00000245907.4:p.Gln844His
ENST00000245907.10:c.2532G>C	ENSP00000245907.4:p.Gln844His
ENST00000594005.1:n.13G>C
ENST00000602053.1:n.580G>C
NM_000064.3:c.2532G>C	NP_000055.2:p.Gln844His
NM_000064.4:c.2532G>C MANE Select	NP_000055.2:p.Gln844His