Canonical Allele Identifier: CA403632902
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6697433-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697433G>C , CM000681.2:g.6697433G>C GRCh38
NC_000019.9:g.6697444G>C , CM000681.1:g.6697444G>C GRCh37
NC_000019.8:g.6648444G>C NCBI36
NG_009557.1:g.28219C>G , LRG_27:g.28219C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1055C>G
ENST00000695652.1:c.2584C>G ENSP00000512083.1:p.Leu862Val
ENST00000695653.1:c.616C>G ENSP00000512084.1:p.Leu206Val
ENST00000695654.1:c.1831C>G ENSP00000512085.1:p.Leu611Val
ENST00000695655.1:c.1648C>G ENSP00000512086.1:n.1648C>G
ENST00000695692.1:n.2071C>G
ENST00000245907.11:c.2707C>G MANE Select ENSP00000245907.4:p.Leu903Val
ENST00000245907.10:c.2707C>G ENSP00000245907.4:p.Leu903Val
ENST00000594005.1:n.283C>G
NM_000064.3:c.2707C>G NP_000055.2:p.Leu903Val
NM_000064.4:c.2707C>G MANE Select NP_000055.2:p.Leu903Val