Canonical Allele Identifier: CA403618676
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685140A>C , CM000681.2:g.6685140A>C GRCh38
NC_000019.9:g.6685151A>C , CM000681.1:g.6685151A>C GRCh37
NC_000019.8:g.6636151A>C NCBI36
NG_009557.1:g.40512T>G , LRG_27:g.40512T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2165T>G
ENST00000695653.1:c.1726T>G ENSP00000512084.1:p.Phe576Val
ENST00000695654.1:c.2842T>G ENSP00000512085.1:p.Phe948Val
ENST00000695690.1:n.8T>G
ENST00000695691.1:n.8T>G
ENST00000245907.11:c.3817T>G MANE Select ENSP00000245907.4:p.Phe1273Val
ENST00000245907.10:c.3817T>G ENSP00000245907.4:p.Phe1273Val
ENST00000596238.1:n.260T>G
ENST00000601008.1:c.241+1606T>G ENSP00000471384.1:n.241+1606T>G
NM_000064.3:c.3817T>G NP_000055.2:p.Phe1273Val
NM_000064.4:c.3817T>G MANE Select NP_000055.2:p.Phe1273Val