Canonical Allele Identifier: CA304789042
Community Standard Title: NM_000064.4(C3):c.2354+1G>A
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6702470C>T , CM000681.2:g.6702470C>T GRCh38
NC_000019.9:g.6702481C>T , CM000681.1:g.6702481C>T GRCh37
NC_000019.8:g.6653481C>T NCBI36
NG_009557.1:g.23182G>A , LRG_27:g.23182G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000064.4:c.2354+1G>A MANE Select NP_000055.2:n.2354+1G>A
ENST00000245907.11:c.2354+1G>A MANE Select ENSP00000245907.4:n.2354+1G>A
NM_000064.3:c.2354+1G>A NP_000055.2:n.2354+1G>A
ENST00000245907.10:c.2354+1G>A ENSP00000245907.4:n.2354+1G>A
ENST00000602053.1:n.402+1G>A
ENST00000695651.1:n.702+1G>A
ENST00000695652.1:c.2231+1G>A ENSP00000512083.1:n.2231+1G>A
ENST00000695653.1:c.263+1G>A ENSP00000512084.1:n.263+1G>A
ENST00000695654.1:c.1478+1G>A ENSP00000512085.1:n.1478+1G>A
ENST00000695655.1:c.1295+1G>A ENSP00000512086.1:n.1295+1G>A
ENST00000695692.1:n.1718+1G>A