Canonical Allele Identifier: CA884131886
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1169258176
gnomAD v3: 19-6713865-A-T
gnomAD v4: 19-6713865-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713865A>T , CM000681.2:g.6713865A>T GRCh38
NC_000019.9:g.6713876A>T , CM000681.1:g.6713876A>T GRCh37
NC_000019.8:g.6664876A>T NCBI36
NG_009557.1:g.11787T>A , LRG_27:g.11787T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.650+127T>A ENSP00000512083.1:n.650+127T>A
ENST00000245907.11:c.773+127T>A MANE Select ENSP00000245907.4:n.773+127T>A
ENST00000245907.10:c.773+127T>A ENSP00000245907.4:n.773+127T>A
ENST00000595577.1:n.277+127T>A
NM_000064.3:c.773+127T>A NP_000055.2:n.773+127T>A
NM_000064.4:c.773+127T>A MANE Select NP_000055.2:n.773+127T>A