Canonical Allele Identifier: CA505123741
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6686286-A-G
MyVariant Identifiers: chr19:g.6686297A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686286A>G , CM000681.2:g.6686286A>G GRCh38
NC_000019.9:g.6686297A>G , CM000681.1:g.6686297A>G GRCh37
NC_000019.8:g.6637297A>G NCBI36
NG_009557.1:g.39366T>C , LRG_27:g.39366T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1996T>C
ENST00000695652.1:c.3525T>C ENSP00000512083.1:p.Asp1175=
ENST00000695653.1:c.1557T>C ENSP00000512084.1:p.Asp519=
ENST00000695654.1:c.2673T>C ENSP00000512085.1:p.Asp891=
ENST00000695655.1:c.2589T>C ENSP00000512086.1:n.2589T>C
ENST00000695692.1:n.3012T>C
ENST00000245907.11:c.3648T>C MANE Select ENSP00000245907.4:p.Asp1216=
ENST00000245907.10:c.3648T>C ENSP00000245907.4:p.Asp1216=
ENST00000596238.1:n.91T>C
ENST00000601008.1:c.241+460T>C ENSP00000471384.1:n.241+460T>C
NM_000064.3:c.3648T>C NP_000055.2:p.Asp1216=
NM_000064.4:c.3648T>C MANE Select NP_000055.2:p.Asp1216=