Canonical Allele Identifier: CA403618202
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6684993C>G , CM000681.2:g.6684993C>G GRCh38
NC_000019.9:g.6685004C>G , CM000681.1:g.6685004C>G GRCh37
NC_000019.8:g.6636004C>G NCBI36
NG_009557.1:g.40659G>C , LRG_27:g.40659G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2312G>C
ENST00000695653.1:c.1873G>C ENSP00000512084.1:p.Glu625Gln
ENST00000695654.1:c.2989G>C ENSP00000512085.1:p.Glu997Gln
ENST00000695690.1:n.155G>C
ENST00000695691.1:n.155G>C
ENST00000245907.11:c.3964G>C MANE Select ENSP00000245907.4:p.Glu1322Gln
ENST00000245907.10:c.3964G>C ENSP00000245907.4:p.Glu1322Gln
ENST00000596238.1:n.407G>C
ENST00000596548.1:c.46G>C ENSP00000469744.1:p.Glu16Gln
ENST00000601008.1:c.241+1753G>C ENSP00000471384.1:n.241+1753G>C
NM_000064.3:c.3964G>C NP_000055.2:p.Glu1322Gln
NM_000064.4:c.3964G>C MANE Select NP_000055.2:p.Glu1322Gln