Canonical Allele Identifier: CA403618113
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6684834T>A , CM000681.2:g.6684834T>A GRCh38
NC_000019.9:g.6684845T>A , CM000681.1:g.6684845T>A GRCh37
NC_000019.8:g.6635845T>A NCBI36
NG_009557.1:g.40818A>T , LRG_27:g.40818A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2318A>T
ENST00000695653.1:c.1879A>T ENSP00000512084.1:p.Thr627Ser
ENST00000695654.1:c.2995A>T ENSP00000512085.1:p.Thr999Ser
ENST00000695690.1:n.161A>T
ENST00000695691.1:n.161A>T
ENST00000245907.11:c.3970A>T MANE Select ENSP00000245907.4:p.Thr1324Ser
ENST00000245907.10:c.3970A>T ENSP00000245907.4:p.Thr1324Ser
ENST00000596238.1:n.413A>T
ENST00000596548.1:c.52A>T ENSP00000469744.1:p.Thr18Ser
ENST00000601008.1:c.241+1912A>T ENSP00000471384.1:n.241+1912A>T
NM_000064.3:c.3970A>T NP_000055.2:p.Thr1324Ser
NM_000064.4:c.3970A>T MANE Select NP_000055.2:p.Thr1324Ser