Canonical Allele Identifier: CA403612607
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6679419-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679419G>C , CM000681.2:g.6679419G>C GRCh38
NC_000019.9:g.6679430G>C , CM000681.1:g.6679430G>C GRCh37
NC_000019.8:g.6630430G>C NCBI36
NG_009557.1:g.46233C>G , LRG_27:g.46233C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2882C>G
ENST00000695653.1:c.2443C>G ENSP00000512084.1:p.Arg815Gly
ENST00000695654.1:c.3559C>G ENSP00000512085.1:p.Arg1187Gly
ENST00000695689.1:c.505C>G ENSP00000512101.1:n.505C>G
ENST00000695690.1:n.1599C>G
ENST00000695691.1:n.1395C>G
ENST00000245907.11:c.4534C>G MANE Select ENSP00000245907.4:p.Arg1512Gly
ENST00000245907.10:c.4534C>G ENSP00000245907.4:p.Arg1512Gly
ENST00000599668.1:n.129C>G
ENST00000599899.5:n.1493C>G
ENST00000601008.1:c.242-1461C>G ENSP00000471384.1:n.242-1461C>G
NM_000064.3:c.4534C>G NP_000055.2:p.Arg1512Gly
NM_000064.4:c.4534C>G MANE Select NP_000055.2:p.Arg1512Gly