Canonical Allele Identifier: CA2587878431
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6713634-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713634C>A , CM000681.2:g.6713634C>A GRCh38
NC_000019.9:g.6713645C>A , CM000681.1:g.6713645C>A GRCh37
NC_000019.8:g.6664645C>A NCBI36
NG_009557.1:g.12018G>T , LRG_27:g.12018G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.651-125G>T ENSP00000512083.1:n.651-125G>T
ENST00000245907.11:c.774-125G>T MANE Select ENSP00000245907.4:n.774-125G>T
ENST00000245907.10:c.774-125G>T ENSP00000245907.4:n.774-125G>T
ENST00000595577.1:n.278-125G>T
ENST00000597442.5:n.24-125G>T
NM_000064.3:c.774-125G>T NP_000055.2:n.774-125G>T
NM_000064.4:c.774-125G>T MANE Select NP_000055.2:n.774-125G>T