Canonical Allele Identifier: CA403633994
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697734C>A , CM000681.2:g.6697734C>A GRCh38
NC_000019.9:g.6697745C>A , CM000681.1:g.6697745C>A GRCh37
NC_000019.8:g.6648745C>A NCBI36
NG_009557.1:g.27918G>T , LRG_27:g.27918G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.849G>T
ENST00000695652.1:c.2378G>T ENSP00000512083.1:p.Arg793Leu
ENST00000695653.1:c.410G>T ENSP00000512084.1:p.Arg137Leu
ENST00000695654.1:c.1625G>T ENSP00000512085.1:p.Arg542Leu
ENST00000695655.1:c.1442G>T ENSP00000512086.1:n.1442G>T
ENST00000695692.1:n.1865G>T
ENST00000245907.11:c.2501G>T MANE Select ENSP00000245907.4:p.Arg834Leu
ENST00000245907.10:c.2501G>T ENSP00000245907.4:p.Arg834Leu
ENST00000602053.1:n.549G>T
NM_000064.3:c.2501G>T NP_000055.2:p.Arg834Leu
NM_000064.4:c.2501G>T MANE Select NP_000055.2:p.Arg834Leu