Canonical Allele Identifier: CA403643216
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714219T>A , CM000681.2:g.6714219T>A GRCh38
NC_000019.9:g.6714230T>A , CM000681.1:g.6714230T>A GRCh37
NC_000019.8:g.6665230T>A NCBI36
NG_009557.1:g.11433A>T , LRG_27:g.11433A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.506A>T ENSP00000512083.1:p.Tyr169Phe
ENST00000245907.11:c.629A>T MANE Select ENSP00000245907.4:p.Tyr210Phe
ENST00000245907.10:c.629A>T ENSP00000245907.4:p.Tyr210Phe
ENST00000595577.1:n.133A>T
NM_000064.3:c.629A>T NP_000055.2:p.Tyr210Phe
NM_000064.4:c.629A>T MANE Select NP_000055.2:p.Tyr210Phe