Canonical Allele Identifier: CA403612549
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679409T>G , CM000681.2:g.6679409T>G GRCh38
NC_000019.9:g.6679420T>G , CM000681.1:g.6679420T>G GRCh37
NC_000019.8:g.6630420T>G NCBI36
NG_009557.1:g.46243A>C , LRG_27:g.46243A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.2892A>C
ENST00000695653.1:c.2453A>C ENSP00000512084.1:p.Glu818Ala
ENST00000695654.1:c.3569A>C ENSP00000512085.1:p.Glu1190Ala
ENST00000695689.1:c.515A>C ENSP00000512101.1:n.515A>C
ENST00000695690.1:n.1609A>C
ENST00000695691.1:n.1405A>C
ENST00000245907.11:c.4544A>C MANE Select ENSP00000245907.4:p.Glu1515Ala
ENST00000245907.10:c.4544A>C ENSP00000245907.4:p.Glu1515Ala
ENST00000599668.1:n.139A>C
ENST00000599899.5:n.1503A>C
ENST00000601008.1:c.242-1451A>C ENSP00000471384.1:n.242-1451A>C
NM_000064.3:c.4544A>C NP_000055.2:p.Glu1515Ala
NM_000064.4:c.4544A>C MANE Select NP_000055.2:p.Glu1515Ala