Canonical Allele Identifier: CA403615486
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682206G>A , CM000681.2:g.6682206G>A GRCh38
NC_000019.9:g.6682217G>A , CM000681.1:g.6682217G>A GRCh37
NC_000019.8:g.6633217G>A NCBI36
NG_009557.1:g.43446C>T , LRG_27:g.43446C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2544C>T
ENST00000695653.1:c.2105C>T ENSP00000512084.1:p.Thr702Ile
ENST00000695654.1:c.3221C>T ENSP00000512085.1:p.Thr1074Ile
ENST00000695689.1:c.167C>T ENSP00000512101.1:n.167C>T
ENST00000695690.1:n.387C>T
ENST00000695691.1:n.387C>T
ENST00000245907.11:c.4196C>T MANE Select ENSP00000245907.4:p.Thr1399Ile
ENST00000245907.10:c.4196C>T ENSP00000245907.4:p.Thr1399Ile
ENST00000596548.1:c.317C>T ENSP00000469744.1:p.Thr106Ile
ENST00000599899.5:n.1155C>T
ENST00000601008.1:c.242-4248C>T ENSP00000471384.1:n.242-4248C>T
NM_000064.3:c.4196C>T NP_000055.2:p.Thr1399Ile
NM_000064.4:c.4196C>T MANE Select NP_000055.2:p.Thr1399Ile