Canonical Allele Identifier: CA403612855
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679484G>A , CM000681.2:g.6679484G>A GRCh38
NC_000019.9:g.6679495G>A , CM000681.1:g.6679495G>A GRCh37
NC_000019.8:g.6630495G>A NCBI36
NG_009557.1:g.46168C>T , LRG_27:g.46168C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2817C>T
ENST00000695653.1:c.2378C>T ENSP00000512084.1:p.Thr793Ile
ENST00000695654.1:c.3494C>T ENSP00000512085.1:p.Thr1165Ile
ENST00000695689.1:c.440C>T ENSP00000512101.1:n.440C>T
ENST00000695690.1:n.1534C>T
ENST00000695691.1:n.1330C>T
ENST00000245907.11:c.4469C>T MANE Select ENSP00000245907.4:p.Thr1490Ile
ENST00000245907.10:c.4469C>T ENSP00000245907.4:p.Thr1490Ile
ENST00000599668.1:n.64C>T
ENST00000599899.5:n.1428C>T
ENST00000601008.1:c.242-1526C>T ENSP00000471384.1:n.242-1526C>T
NM_000064.3:c.4469C>T NP_000055.2:p.Thr1490Ile
NM_000064.4:c.4469C>T MANE Select NP_000055.2:p.Thr1490Ile