Canonical Allele Identifier: CA403618671
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685139A>G , CM000681.2:g.6685139A>G GRCh38
NC_000019.9:g.6685150A>G , CM000681.1:g.6685150A>G GRCh37
NC_000019.8:g.6636150A>G NCBI36
NG_009557.1:g.40513T>C , LRG_27:g.40513T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2166T>C
ENST00000695653.1:c.1727T>C ENSP00000512084.1:p.Phe576Ser
ENST00000695654.1:c.2843T>C ENSP00000512085.1:p.Phe948Ser
ENST00000695690.1:n.9T>C
ENST00000695691.1:n.9T>C
ENST00000245907.11:c.3818T>C MANE Select ENSP00000245907.4:p.Phe1273Ser
ENST00000245907.10:c.3818T>C ENSP00000245907.4:p.Phe1273Ser
ENST00000596238.1:n.261T>C
ENST00000601008.1:c.241+1607T>C ENSP00000471384.1:n.241+1607T>C
NM_000064.3:c.3818T>C NP_000055.2:p.Phe1273Ser
NM_000064.4:c.3818T>C MANE Select NP_000055.2:p.Phe1273Ser