Canonical Allele Identifier: CA403618605
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1917969533

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685125C>T , CM000681.2:g.6685125C>T GRCh38
NC_000019.9:g.6685136C>T , CM000681.1:g.6685136C>T GRCh37
NC_000019.8:g.6636136C>T NCBI36
NG_009557.1:g.40527G>A , LRG_27:g.40527G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.2180G>A
ENST00000695653.1:c.1741G>A ENSP00000512084.1:p.Ala581Thr
ENST00000695654.1:c.2857G>A ENSP00000512085.1:p.Ala953Thr
ENST00000695690.1:n.23G>A
ENST00000695691.1:n.23G>A
ENST00000245907.11:c.3832G>A MANE Select ENSP00000245907.4:p.Ala1278Thr
ENST00000245907.10:c.3832G>A ENSP00000245907.4:p.Ala1278Thr
ENST00000596238.1:n.275G>A
ENST00000601008.1:c.241+1621G>A ENSP00000471384.1:n.241+1621G>A
NM_000064.3:c.3832G>A NP_000055.2:p.Ala1278Thr
NM_000064.4:c.3832G>A MANE Select NP_000055.2:p.Ala1278Thr