Canonical Allele Identifier: CA505193139
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1234787376
gnomAD v2: 19-6713472-C-G
gnomAD v4: 19-6713461-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713461C>G , CM000681.2:g.6713461C>G GRCh38
NC_000019.9:g.6713472C>G , CM000681.1:g.6713472C>G GRCh37
NC_000019.8:g.6664472C>G NCBI36
NG_009557.1:g.12191G>C , LRG_27:g.12191G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.699G>C ENSP00000512083.1:p.Gly233=
ENST00000695692.1:n.146G>C
ENST00000245907.11:c.822G>C MANE Select ENSP00000245907.4:p.Gly274=
ENST00000245907.10:c.822G>C ENSP00000245907.4:p.Gly274=
ENST00000595577.1:n.326G>C
ENST00000597442.5:n.72G>C
NM_000064.3:c.822G>C NP_000055.2:p.Gly274=
NM_000064.4:c.822G>C MANE Select NP_000055.2:p.Gly274=