Canonical Allele Identifier: CA403619943

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6686253T>G (hg19) ; chr19:g.6686242T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686242T>G , CM000681.2:g.6686242T>G	GRCh38
NC_000019.9:g.6686253T>G , CM000681.1:g.6686253T>G	GRCh37
NC_000019.8:g.6637253T>G	NCBI36
NG_009557.1:g.39410A>C , LRG_27:g.39410A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2040A>C
ENST00000695652.1:c.3569A>C	ENSP00000512083.1:p.Glu1190Ala
ENST00000695653.1:c.1601A>C	ENSP00000512084.1:p.Glu534Ala
ENST00000695654.1:c.2717A>C	ENSP00000512085.1:p.Glu906Ala
ENST00000695655.1:c.2633A>C	ENSP00000512086.1:n.2633A>C
ENST00000695692.1:n.3056A>C
ENST00000245907.11:c.3692A>C MANE Select	ENSP00000245907.4:p.Glu1231Ala
ENST00000245907.10:c.3692A>C	ENSP00000245907.4:p.Glu1231Ala
ENST00000596238.1:n.135A>C
ENST00000601008.1:c.241+504A>C	ENSP00000471384.1:n.241+504A>C
NM_000064.3:c.3692A>C	NP_000055.2:p.Glu1231Ala
NM_000064.4:c.3692A>C MANE Select	NP_000055.2:p.Glu1231Ala