Canonical Allele Identifier: CA403639350
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709751A>G , CM000681.2:g.6709751A>G GRCh38
NC_000019.9:g.6709762A>G , CM000681.1:g.6709762A>G GRCh37
NC_000019.8:g.6660762A>G NCBI36
NG_009557.1:g.15901T>C , LRG_27:g.15901T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1655T>C ENSP00000512083.1:p.Val552Ala
ENST00000695654.1:c.902T>C ENSP00000512085.1:p.Val301Ala
ENST00000695655.1:c.719T>C ENSP00000512086.1:n.719T>C
ENST00000695692.1:n.1142T>C
ENST00000245907.11:c.1778T>C MANE Select ENSP00000245907.4:p.Val593Ala
ENST00000245907.10:c.1778T>C ENSP00000245907.4:p.Val593Ala
NM_000064.3:c.1778T>C NP_000055.2:p.Val593Ala
NM_000064.4:c.1778T>C MANE Select NP_000055.2:p.Val593Ala