Canonical Allele Identifier: CA505124818
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1967865299
gnomAD v4: 19-6709810-C-A
MyVariant Identifiers: chr19:g.6709821C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709810C>A , CM000681.2:g.6709810C>A GRCh38
NC_000019.9:g.6709821C>A , CM000681.1:g.6709821C>A GRCh37
NC_000019.8:g.6660821C>A NCBI36
NG_009557.1:g.15842G>T , LRG_27:g.15842G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1596G>T ENSP00000512083.1:p.Arg532=
ENST00000695654.1:c.843G>T ENSP00000512085.1:p.Arg281=
ENST00000695655.1:c.660G>T ENSP00000512086.1:n.660G>T
ENST00000695692.1:n.1083G>T
ENST00000245907.11:c.1719G>T MANE Select ENSP00000245907.4:p.Arg573=
ENST00000245907.10:c.1719G>T ENSP00000245907.4:p.Arg573=
ENST00000600763.1:n.352G>T
NM_000064.3:c.1719G>T NP_000055.2:p.Arg573=
NM_000064.4:c.1719G>T MANE Select NP_000055.2:p.Arg573=