Canonical Allele Identifier: CA505124979

Gene: C3

Linked Data

• gnomAD v4: 19-6714185-C-T
• MyVariant Identifiers: chr19:g.6714196C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6714185C>T , CM000681.2:g.6714185C>T	GRCh38
NC_000019.9:g.6714196C>T , CM000681.1:g.6714196C>T	GRCh37
NC_000019.8:g.6665196C>T	NCBI36
NG_009557.1:g.11467G>A , LRG_27:g.11467G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.540G>A	ENSP00000512083.1:p.Glu180=
ENST00000245907.11:c.663G>A MANE Select	ENSP00000245907.4:p.Glu221=
ENST00000245907.10:c.663G>A	ENSP00000245907.4:p.Glu221=
ENST00000595577.1:n.167G>A
NM_000064.3:c.663G>A	NP_000055.2:p.Glu221=
NM_000064.4:c.663G>A MANE Select	NP_000055.2:p.Glu221=