Canonical Allele Identifier: CA993075781
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1599524420
gnomAD v3: 19-6712848-A-C
gnomAD v4: 19-6712848-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6712848A>C , CM000681.2:g.6712848A>C GRCh38
NC_000019.9:g.6712859A>C , CM000681.1:g.6712859A>C GRCh37
NC_000019.8:g.6663859A>C NCBI36
NG_009557.1:g.12804T>G , LRG_27:g.12804T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.881-225T>G ENSP00000512083.1:n.881-225T>G
ENST00000695654.1:c.128-225T>G ENSP00000512085.1:n.128-225T>G
ENST00000695692.1:n.328-185T>G
ENST00000245907.11:c.1004-225T>G MANE Select ENSP00000245907.4:n.1004-225T>G
ENST00000245907.10:c.1004-225T>G ENSP00000245907.4:n.1004-225T>G
ENST00000594270.5:n.128-246T>G
ENST00000595577.1:n.508-225T>G
ENST00000597442.5:n.254-225T>G
NM_000064.3:c.1004-225T>G NP_000055.2:n.1004-225T>G
NM_000064.4:c.1004-225T>G MANE Select NP_000055.2:n.1004-225T>G