Canonical Allele Identifier: CA2320563477
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6705235T>A , CM000681.2:g.6705235T>A GRCh38
NC_000019.9:g.6705246T>A , CM000681.1:g.6705246T>A GRCh37
NC_000019.8:g.6656246T>A NCBI36
NG_009557.1:g.20417A>T , LRG_27:g.20417A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.593+814A>T
ENST00000695652.1:c.2122+1841A>T ENSP00000512083.1:n.2122+1841A>T
ENST00000695653.1:c.154+1841A>T ENSP00000512084.1:n.154+1841A>T
ENST00000695654.1:c.1369+1841A>T ENSP00000512085.1:n.1369+1841A>T
ENST00000695655.1:c.1186+1841A>T ENSP00000512086.1:n.1186+1841A>T
ENST00000695692.1:n.1609+1841A>T
ENST00000245907.11:c.2245+1841A>T MANE Select ENSP00000245907.4:n.2245+1841A>T
ENST00000245907.10:c.2245+1841A>T ENSP00000245907.4:n.2245+1841A>T
NM_000064.3:c.2245+1841A>T NP_000055.2:n.2245+1841A>T
NM_000064.4:c.2245+1841A>T MANE Select NP_000055.2:n.2245+1841A>T