Canonical Allele Identifier: CA403643116
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6714175-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714175T>G , CM000681.2:g.6714175T>G GRCh38
NC_000019.9:g.6714186T>G , CM000681.1:g.6714186T>G GRCh37
NC_000019.8:g.6665186T>G NCBI36
NG_009557.1:g.11477A>C , LRG_27:g.11477A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.550A>C ENSP00000512083.1:p.Lys184Gln
ENST00000245907.11:c.673A>C MANE Select ENSP00000245907.4:p.Lys225Gln
ENST00000245907.10:c.673A>C ENSP00000245907.4:p.Lys225Gln
ENST00000595577.1:n.177A>C
NM_000064.3:c.673A>C NP_000055.2:p.Lys225Gln
NM_000064.4:c.673A>C MANE Select NP_000055.2:p.Lys225Gln