Canonical Allele Identifier: CA993076033
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1256371893
gnomAD v3: 19-6713397-T-C
gnomAD v4: 19-6713397-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713397T>C , CM000681.2:g.6713397T>C GRCh38
NC_000019.9:g.6713408T>C , CM000681.1:g.6713408T>C GRCh37
NC_000019.8:g.6664408T>C NCBI36
NG_009557.1:g.12255A>G , LRG_27:g.12255A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.753+10A>G ENSP00000512083.1:n.753+10A>G
ENST00000695692.1:n.200+10A>G
ENST00000245907.11:c.876+10A>G MANE Select ENSP00000245907.4:n.876+10A>G
ENST00000245907.10:c.876+10A>G ENSP00000245907.4:n.876+10A>G
ENST00000595577.1:n.380+10A>G
ENST00000597442.5:n.126+10A>G
NM_000064.3:c.876+10A>G NP_000055.2:n.876+10A>G
NM_000064.4:c.876+10A>G MANE Select NP_000055.2:n.876+10A>G