Canonical Allele Identifier: CA403620114
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686263C>A , CM000681.2:g.6686263C>A GRCh38
NC_000019.9:g.6686274C>A , CM000681.1:g.6686274C>A GRCh37
NC_000019.8:g.6637274C>A NCBI36
NG_009557.1:g.39389G>T , LRG_27:g.39389G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2019G>T
ENST00000695652.1:c.3548G>T ENSP00000512083.1:p.Gly1183Val
ENST00000695653.1:c.1580G>T ENSP00000512084.1:p.Gly527Val
ENST00000695654.1:c.2696G>T ENSP00000512085.1:p.Gly899Val
ENST00000695655.1:c.2612G>T ENSP00000512086.1:n.2612G>T
ENST00000695692.1:n.3035G>T
ENST00000245907.11:c.3671G>T MANE Select ENSP00000245907.4:p.Gly1224Val
ENST00000245907.10:c.3671G>T ENSP00000245907.4:p.Gly1224Val
ENST00000596238.1:n.114G>T
ENST00000601008.1:c.241+483G>T ENSP00000471384.1:n.241+483G>T
NM_000064.3:c.3671G>T NP_000055.2:p.Gly1224Val
NM_000064.4:c.3671G>T MANE Select NP_000055.2:p.Gly1224Val