Canonical Allele Identifier: CA9128538
Community Standard Title: NM_000064.4(C3):c.4030-2A>G
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6684652T>C , CM000681.2:g.6684652T>C GRCh38
NC_000019.9:g.6684663T>C , CM000681.1:g.6684663T>C GRCh37
NC_000019.8:g.6635663T>C NCBI36
NG_009557.1:g.41000A>G , LRG_27:g.41000A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000064.4:c.4030-2A>G MANE Select NP_000055.2:n.4030-2A>G
ENST00000245907.11:c.4030-2A>G MANE Select ENSP00000245907.4:n.4030-2A>G
NM_000064.3:c.4030-2A>G NP_000055.2:n.4030-2A>G
ENST00000245907.10:c.4030-2A>G ENSP00000245907.4:n.4030-2A>G
ENST00000596238.1:n.473-2A>G
ENST00000596548.1:c.112-2A>G ENSP00000469744.1:n.112-2A>G
ENST00000601008.1:c.241+2094A>G ENSP00000471384.1:n.241+2094A>G
ENST00000695651.1:n.2378-2A>G
ENST00000695653.1:c.1939-2A>G ENSP00000512084.1:n.1939-2A>G
ENST00000695654.1:c.3055-2A>G ENSP00000512085.1:n.3055-2A>G
ENST00000695690.1:n.221-2A>G
ENST00000695691.1:n.221-2A>G