Canonical Allele Identifier: CA403642711

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6713489C>T (hg19) ; chr19:g.6713478C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713478C>T , CM000681.2:g.6713478C>T	GRCh38
NC_000019.9:g.6713489C>T , CM000681.1:g.6713489C>T	GRCh37
NC_000019.8:g.6664489C>T	NCBI36
NG_009557.1:g.12174G>A , LRG_27:g.12174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.682G>A	ENSP00000512083.1:p.Ala228Thr
ENST00000695692.1:n.129G>A
ENST00000245907.11:c.805G>A MANE Select	ENSP00000245907.4:p.Ala269Thr
ENST00000245907.10:c.805G>A	ENSP00000245907.4:p.Ala269Thr
ENST00000595577.1:n.309G>A
ENST00000597442.5:n.55G>A
NM_000064.3:c.805G>A	NP_000055.2:p.Ala269Thr
NM_000064.4:c.805G>A MANE Select	NP_000055.2:p.Ala269Thr