Canonical Allele Identifier: CA403612862
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679487C>G , CM000681.2:g.6679487C>G GRCh38
NC_000019.9:g.6679498C>G , CM000681.1:g.6679498C>G GRCh37
NC_000019.8:g.6630498C>G NCBI36
NG_009557.1:g.46165G>C , LRG_27:g.46165G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2814G>C
ENST00000695653.1:c.2375G>C ENSP00000512084.1:p.Cys792Ser
ENST00000695654.1:c.3491G>C ENSP00000512085.1:p.Cys1164Ser
ENST00000695689.1:c.437G>C ENSP00000512101.1:n.437G>C
ENST00000695690.1:n.1531G>C
ENST00000695691.1:n.1327G>C
ENST00000245907.11:c.4466G>C MANE Select ENSP00000245907.4:p.Cys1489Ser
ENST00000245907.10:c.4466G>C ENSP00000245907.4:p.Cys1489Ser
ENST00000599668.1:n.61G>C
ENST00000599899.5:n.1425G>C
ENST00000601008.1:c.242-1529G>C ENSP00000471384.1:n.242-1529G>C
NM_000064.3:c.4466G>C NP_000055.2:p.Cys1489Ser
NM_000064.4:c.4466G>C MANE Select NP_000055.2:p.Cys1489Ser