Canonical Allele Identifier: CA403633152
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697488C>G , CM000681.2:g.6697488C>G GRCh38
NC_000019.9:g.6697499C>G , CM000681.1:g.6697499C>G GRCh37
NC_000019.8:g.6648499C>G NCBI36
NG_009557.1:g.28164G>C , LRG_27:g.28164G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1000G>C
ENST00000695652.1:c.2529G>C ENSP00000512083.1:p.Gln843His
ENST00000695653.1:c.561G>C ENSP00000512084.1:p.Gln187His
ENST00000695654.1:c.1776G>C ENSP00000512085.1:p.Gln592His
ENST00000695655.1:c.1593G>C ENSP00000512086.1:n.1593G>C
ENST00000695692.1:n.2016G>C
ENST00000245907.11:c.2652G>C MANE Select ENSP00000245907.4:p.Gln884His
ENST00000245907.10:c.2652G>C ENSP00000245907.4:p.Gln884His
ENST00000594005.1:n.228G>C
NM_000064.3:c.2652G>C NP_000055.2:p.Gln884His
NM_000064.4:c.2652G>C MANE Select NP_000055.2:p.Gln884His