Canonical Allele Identifier: CA403634045
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697750A>G , CM000681.2:g.6697750A>G GRCh38
NC_000019.9:g.6697761A>G , CM000681.1:g.6697761A>G GRCh37
NC_000019.8:g.6648761A>G NCBI36
NG_009557.1:g.27902T>C , LRG_27:g.27902T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.833T>C
ENST00000695652.1:c.2362T>C ENSP00000512083.1:p.Phe788Leu
ENST00000695653.1:c.394T>C ENSP00000512084.1:p.Phe132Leu
ENST00000695654.1:c.1609T>C ENSP00000512085.1:p.Phe537Leu
ENST00000695655.1:c.1426T>C ENSP00000512086.1:n.1426T>C
ENST00000695692.1:n.1849T>C
ENST00000245907.11:c.2485T>C MANE Select ENSP00000245907.4:p.Phe829Leu
ENST00000245907.10:c.2485T>C ENSP00000245907.4:p.Phe829Leu
ENST00000602053.1:n.533T>C
NM_000064.3:c.2485T>C NP_000055.2:p.Phe829Leu
NM_000064.4:c.2485T>C MANE Select NP_000055.2:p.Phe829Leu