Canonical Allele Identifier: CA403636852
Community Standard Title: NM_000064.4(C3):c.2209C>T (p.Gln737Ter)
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6707112G>A , CM000681.2:g.6707112G>A GRCh38
NC_000019.9:g.6707123G>A , CM000681.1:g.6707123G>A GRCh37
NC_000019.8:g.6658123G>A NCBI36
NG_009557.1:g.18540C>T , LRG_27:g.18540C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000064.4:c.2209C>T MANE Select NP_000055.2:p.Gln737Ter
ENST00000245907.11:c.2209C>T MANE Select ENSP00000245907.4:p.Gln737Ter
NM_000064.3:c.2209C>T NP_000055.2:p.Gln737Ter
ENST00000245907.10:c.2209C>T ENSP00000245907.4:p.Gln737Ter
ENST00000695651.1:n.480C>T
ENST00000695652.1:c.2086C>T ENSP00000512083.1:p.Gln696Ter
ENST00000695653.1:c.118C>T ENSP00000512084.1:p.Gln40Ter
ENST00000695654.1:c.1333C>T ENSP00000512085.1:p.Gln445Ter
ENST00000695655.1:c.1150C>T ENSP00000512086.1:n.1150C>T
ENST00000695692.1:n.1573C>T