Canonical Allele Identifier: CA403639250
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709719C>A , CM000681.2:g.6709719C>A GRCh38
NC_000019.9:g.6709730C>A , CM000681.1:g.6709730C>A GRCh37
NC_000019.8:g.6660730C>A NCBI36
NG_009557.1:g.15933G>T , LRG_27:g.15933G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1687G>T ENSP00000512083.1:p.Val563Leu
ENST00000695654.1:c.934G>T ENSP00000512085.1:p.Val312Leu
ENST00000695655.1:c.751G>T ENSP00000512086.1:n.751G>T
ENST00000695692.1:n.1174G>T
ENST00000245907.11:c.1810G>T MANE Select ENSP00000245907.4:p.Val604Leu
ENST00000245907.10:c.1810G>T ENSP00000245907.4:p.Val604Leu
NM_000064.3:c.1810G>T NP_000055.2:p.Val604Leu
NM_000064.4:c.1810G>T MANE Select NP_000055.2:p.Val604Leu