Canonical Allele Identifier: CA403639155
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709690C>G , CM000681.2:g.6709690C>G GRCh38
NC_000019.9:g.6709701C>G , CM000681.1:g.6709701C>G GRCh37
NC_000019.8:g.6660701C>G NCBI36
NG_009557.1:g.15962G>C , LRG_27:g.15962G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1716G>C ENSP00000512083.1:p.Gln572His
ENST00000695654.1:c.963G>C ENSP00000512085.1:p.Gln321His
ENST00000695655.1:c.780G>C ENSP00000512086.1:n.780G>C
ENST00000695692.1:n.1203G>C
ENST00000245907.11:c.1839G>C MANE Select ENSP00000245907.4:p.Gln613His
ENST00000245907.10:c.1839G>C ENSP00000245907.4:p.Gln613His
NM_000064.3:c.1839G>C NP_000055.2:p.Gln613His
NM_000064.4:c.1839G>C MANE Select NP_000055.2:p.Gln613His