Canonical Allele Identifier: CA403618611
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685127T>G , CM000681.2:g.6685127T>G GRCh38
NC_000019.9:g.6685138T>G , CM000681.1:g.6685138T>G GRCh37
NC_000019.8:g.6636138T>G NCBI36
NG_009557.1:g.40525A>C , LRG_27:g.40525A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.2178A>C
ENST00000695653.1:c.1739A>C ENSP00000512084.1:p.Gln580Pro
ENST00000695654.1:c.2855A>C ENSP00000512085.1:p.Gln952Pro
ENST00000695690.1:n.21A>C
ENST00000695691.1:n.21A>C
ENST00000245907.11:c.3830A>C MANE Select ENSP00000245907.4:p.Gln1277Pro
ENST00000245907.10:c.3830A>C ENSP00000245907.4:p.Gln1277Pro
ENST00000596238.1:n.273A>C
ENST00000601008.1:c.241+1619A>C ENSP00000471384.1:n.241+1619A>C
NM_000064.3:c.3830A>C NP_000055.2:p.Gln1277Pro
NM_000064.4:c.3830A>C MANE Select NP_000055.2:p.Gln1277Pro