Canonical Allele Identifier: CA403642145
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6713238-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713238G>T , CM000681.2:g.6713238G>T GRCh38
NC_000019.9:g.6713249G>T , CM000681.1:g.6713249G>T GRCh37
NC_000019.8:g.6664249G>T NCBI36
NG_009557.1:g.12414C>A , LRG_27:g.12414C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.831C>A ENSP00000512083.1:p.Asp277Glu
ENST00000695654.1:c.78C>A ENSP00000512085.1:p.Asp26Glu
ENST00000695692.1:n.278C>A
ENST00000245907.11:c.954C>A MANE Select ENSP00000245907.4:p.Asp318Glu
ENST00000245907.10:c.954C>A ENSP00000245907.4:p.Asp318Glu
ENST00000594270.5:n.78C>A
ENST00000595577.1:n.458C>A
ENST00000597442.5:n.204C>A
NM_000064.3:c.954C>A NP_000055.2:p.Asp318Glu
NM_000064.4:c.954C>A MANE Select NP_000055.2:p.Asp318Glu