Canonical Allele Identifier: CA403612654
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679425G>T , CM000681.2:g.6679425G>T GRCh38
NC_000019.9:g.6679436G>T , CM000681.1:g.6679436G>T GRCh37
NC_000019.8:g.6630436G>T NCBI36
NG_009557.1:g.46227C>A , LRG_27:g.46227C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2876C>A
ENST00000695653.1:c.2437C>A ENSP00000512084.1:p.Leu813Met
ENST00000695654.1:c.3553C>A ENSP00000512085.1:p.Leu1185Met
ENST00000695689.1:c.499C>A ENSP00000512101.1:n.499C>A
ENST00000695690.1:n.1593C>A
ENST00000695691.1:n.1389C>A
ENST00000245907.11:c.4528C>A MANE Select ENSP00000245907.4:p.Leu1510Met
ENST00000245907.10:c.4528C>A ENSP00000245907.4:p.Leu1510Met
ENST00000599668.1:n.123C>A
ENST00000599899.5:n.1487C>A
ENST00000601008.1:c.242-1467C>A ENSP00000471384.1:n.242-1467C>A
NM_000064.3:c.4528C>A NP_000055.2:p.Leu1510Met
NM_000064.4:c.4528C>A MANE Select NP_000055.2:p.Leu1510Met