Canonical Allele Identifier: CA403639156
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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