Canonical Allele Identifier: CA403632833
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697416C>A , CM000681.2:g.6697416C>A GRCh38
NC_000019.9:g.6697427C>A , CM000681.1:g.6697427C>A GRCh37
NC_000019.8:g.6648427C>A NCBI36
NG_009557.1:g.28236G>T , LRG_27:g.28236G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1072G>T
ENST00000695652.1:c.2601G>T ENSP00000512083.1:p.Gln867His
ENST00000695653.1:c.633G>T ENSP00000512084.1:p.Gln211His
ENST00000695654.1:c.1848G>T ENSP00000512085.1:p.Gln616His
ENST00000695655.1:c.1665G>T ENSP00000512086.1:n.1665G>T
ENST00000695692.1:n.2088G>T
ENST00000245907.11:c.2724G>T MANE Select ENSP00000245907.4:p.Gln908His
ENST00000245907.10:c.2724G>T ENSP00000245907.4:p.Gln908His
ENST00000594005.1:n.300G>T
NM_000064.3:c.2724G>T NP_000055.2:p.Gln908His
NM_000064.4:c.2724G>T MANE Select NP_000055.2:p.Gln908His