Canonical Allele Identifier: CA2320559255
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs924012200
gnomAD v4: 19-6697852-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697852C>T , CM000681.2:g.6697852C>T GRCh38
NC_000019.9:g.6697863C>T , CM000681.1:g.6697863C>T GRCh37
NC_000019.8:g.6648863C>T NCBI36
NG_009557.1:g.27800G>A , LRG_27:g.27800G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.789-58G>A
ENST00000695652.1:c.2318-58G>A ENSP00000512083.1:n.2318-58G>A
ENST00000695653.1:c.350-58G>A ENSP00000512084.1:n.350-58G>A
ENST00000695654.1:c.1565-58G>A ENSP00000512085.1:n.1565-58G>A
ENST00000695655.1:c.1382-58G>A ENSP00000512086.1:n.1382-58G>A
ENST00000695692.1:n.1805-58G>A
ENST00000245907.11:c.2441-58G>A MANE Select ENSP00000245907.4:n.2441-58G>A
ENST00000245907.10:c.2441-58G>A ENSP00000245907.4:n.2441-58G>A
ENST00000602053.1:n.489-58G>A
NM_000064.3:c.2441-58G>A NP_000055.2:n.2441-58G>A
NM_000064.4:c.2441-58G>A MANE Select NP_000055.2:n.2441-58G>A