Canonical Allele Identifier: CA403611881
Community Standard Title: NM_000064.4(C3):c.4631-2A>G
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6678457T>C , CM000681.2:g.6678457T>C GRCh38
NC_000019.9:g.6678468T>C , CM000681.1:g.6678468T>C GRCh37
NC_000019.8:g.6629468T>C NCBI36
NG_009557.1:g.47195A>G , LRG_27:g.47195A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000064.4:c.4631-2A>G MANE Select NP_000055.2:n.4631-2A>G
ENST00000245907.11:c.4631-2A>G MANE Select ENSP00000245907.4:n.4631-2A>G
NM_000064.3:c.4631-2A>G NP_000055.2:n.4631-2A>G
ENST00000245907.10:c.4631-2A>G ENSP00000245907.4:n.4631-2A>G
ENST00000599668.1:n.251-2A>G
ENST00000599899.5:n.1590-2A>G
ENST00000601008.1:c.242-499A>G ENSP00000471384.1:n.242-499A>G
ENST00000602229.1:c.78-2A>G
ENST00000695651.1:n.2979-2A>G
ENST00000695653.1:c.2540-2A>G ENSP00000512084.1:n.2540-2A>G
ENST00000695654.1:c.3656-2A>G ENSP00000512085.1:n.3656-2A>G
ENST00000695689.1:c.602-2A>G ENSP00000512101.1:n.602-2A>G
ENST00000695690.1:n.1696-2A>G
ENST00000695691.1:n.1492-2A>G