Canonical Allele Identifier: CA505123719
Gene: C3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.6686255C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686244C>A , CM000681.2:g.6686244C>A GRCh38
NC_000019.9:g.6686255C>A , CM000681.1:g.6686255C>A GRCh37
NC_000019.8:g.6637255C>A NCBI36
NG_009557.1:g.39408G>T , LRG_27:g.39408G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2038G>T
ENST00000695652.1:c.3567G>T ENSP00000512083.1:p.Val1189=
ENST00000695653.1:c.1599G>T ENSP00000512084.1:p.Val533=
ENST00000695654.1:c.2715G>T ENSP00000512085.1:p.Val905=
ENST00000695655.1:c.2631G>T ENSP00000512086.1:n.2631G>T
ENST00000695692.1:n.3054G>T
ENST00000245907.11:c.3690G>T MANE Select ENSP00000245907.4:p.Val1230=
ENST00000245907.10:c.3690G>T ENSP00000245907.4:p.Val1230=
ENST00000596238.1:n.133G>T
ENST00000601008.1:c.241+502G>T ENSP00000471384.1:n.241+502G>T
NM_000064.3:c.3690G>T NP_000055.2:p.Val1230=
NM_000064.4:c.3690G>T MANE Select NP_000055.2:p.Val1230=