Canonical Allele Identifier: CA403618107
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6684833G>A , CM000681.2:g.6684833G>A GRCh38
NC_000019.9:g.6684844G>A , CM000681.1:g.6684844G>A GRCh37
NC_000019.8:g.6635844G>A NCBI36
NG_009557.1:g.40819C>T , LRG_27:g.40819C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2319C>T
ENST00000695653.1:c.1880C>T ENSP00000512084.1:p.Thr627Ile
ENST00000695654.1:c.2996C>T ENSP00000512085.1:p.Thr999Ile
ENST00000695690.1:n.162C>T
ENST00000695691.1:n.162C>T
ENST00000245907.11:c.3971C>T MANE Select ENSP00000245907.4:p.Thr1324Ile
ENST00000245907.10:c.3971C>T ENSP00000245907.4:p.Thr1324Ile
ENST00000596238.1:n.414C>T
ENST00000596548.1:c.53C>T ENSP00000469744.1:p.Thr18Ile
ENST00000601008.1:c.241+1913C>T ENSP00000471384.1:n.241+1913C>T
NM_000064.3:c.3971C>T NP_000055.2:p.Thr1324Ile
NM_000064.4:c.3971C>T MANE Select NP_000055.2:p.Thr1324Ile