Canonical Allele Identifier: CA403643214
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs775684509
gnomAD v2: 19-6714229-A-T
gnomAD v4: 19-6714218-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714218A>T , CM000681.2:g.6714218A>T GRCh38
NC_000019.9:g.6714229A>T , CM000681.1:g.6714229A>T GRCh37
NC_000019.8:g.6665229A>T NCBI36
NG_009557.1:g.11434T>A , LRG_27:g.11434T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000695652.1:c.507T>A ENSP00000512083.1:p.Tyr169Ter
ENST00000245907.11:c.630T>A MANE Select ENSP00000245907.4:p.Tyr210Ter
ENST00000245907.10:c.630T>A ENSP00000245907.4:p.Tyr210Ter
ENST00000595577.1:n.134T>A
NM_000064.3:c.630T>A NP_000055.2:p.Tyr210Ter
NM_000064.4:c.630T>A MANE Select NP_000055.2:p.Tyr210Ter