Canonical Allele Identifier: CA2576661466
Community Standard Title: NM_000064.4(C3):c.2950+48T>A
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6696331A>T , CM000681.2:g.6696331A>T GRCh38
NC_000019.9:g.6696342A>T , CM000681.1:g.6696342A>T GRCh37
NC_000019.8:g.6647342A>T NCBI36
NG_009557.1:g.29321T>A , LRG_27:g.29321T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000064.4:c.2950+48T>A MANE Select NP_000055.2:n.2950+48T>A
ENST00000245907.11:c.2950+48T>A MANE Select ENSP00000245907.4:n.2950+48T>A
NM_000064.3:c.2950+48T>A NP_000055.2:n.2950+48T>A
ENST00000245907.10:c.2950+48T>A ENSP00000245907.4:n.2950+48T>A
ENST00000695651.1:n.1298+48T>A
ENST00000695652.1:c.2827+48T>A ENSP00000512083.1:n.2827+48T>A
ENST00000695653.1:c.859+48T>A ENSP00000512084.1:n.859+48T>A
ENST00000695654.1:c.2074+48T>A ENSP00000512085.1:n.2074+48T>A
ENST00000695655.1:c.1891+48T>A ENSP00000512086.1:n.1891+48T>A
ENST00000695692.1:n.2314+48T>A