Canonical Allele Identifier: CA884130976
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1457902457
gnomAD v3: 19-6712810-T-A
gnomAD v4: 19-6712810-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6712810T>A , CM000681.2:g.6712810T>A GRCh38
NC_000019.9:g.6712821T>A , CM000681.1:g.6712821T>A GRCh37
NC_000019.8:g.6663821T>A NCBI36
NG_009557.1:g.12842A>T , LRG_27:g.12842A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.881-187A>T ENSP00000512083.1:n.881-187A>T
ENST00000695654.1:c.128-187A>T ENSP00000512085.1:n.128-187A>T
ENST00000695692.1:n.328-147A>T
ENST00000245907.11:c.1004-187A>T MANE Select ENSP00000245907.4:n.1004-187A>T
ENST00000245907.10:c.1004-187A>T ENSP00000245907.4:n.1004-187A>T
ENST00000594270.5:n.128-208A>T
ENST00000595577.1:n.508-187A>T
ENST00000597442.5:n.254-187A>T
NM_000064.3:c.1004-187A>T NP_000055.2:n.1004-187A>T
NM_000064.4:c.1004-187A>T MANE Select NP_000055.2:n.1004-187A>T