Canonical Allele Identifier: CA9129745
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs372060158
gnomAD v2: 19-6714230-T-C
gnomAD v3: 19-6714219-T-C
gnomAD v4: 19-6714219-T-C

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.506A>G ENSP00000512083.1:p.Tyr169Cys
ENST00000245907.11:c.629A>G MANE Select ENSP00000245907.4:p.Tyr210Cys
ENST00000245907.10:c.629A>G ENSP00000245907.4:p.Tyr210Cys
ENST00000595577.1:n.133A>G
NM_000064.3:c.629A>G NP_000055.2:p.Tyr210Cys
NM_000064.4:c.629A>G MANE Select NP_000055.2:p.Tyr210Cys