Canonical Allele Identifier: CA884131687
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1398312265
gnomAD v3: 19-6713688-C-G
gnomAD v4: 19-6713688-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713688C>G , CM000681.2:g.6713688C>G GRCh38
NC_000019.9:g.6713699C>G , CM000681.1:g.6713699C>G GRCh37
NC_000019.8:g.6664699C>G NCBI36
NG_009557.1:g.11964G>C , LRG_27:g.11964G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.651-179G>C ENSP00000512083.1:n.651-179G>C
ENST00000245907.11:c.774-179G>C MANE Select ENSP00000245907.4:n.774-179G>C
ENST00000245907.10:c.774-179G>C ENSP00000245907.4:n.774-179G>C
ENST00000595577.1:n.278-179G>C
ENST00000597442.5:n.23+78G>C
NM_000064.3:c.774-179G>C NP_000055.2:n.774-179G>C
NM_000064.4:c.774-179G>C MANE Select NP_000055.2:n.774-179G>C