Canonical Allele Identifier: CA505193149

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6713478G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713467G>T , CM000681.2:g.6713467G>T	GRCh38
NC_000019.9:g.6713478G>T , CM000681.1:g.6713478G>T	GRCh37
NC_000019.8:g.6664478G>T	NCBI36
NG_009557.1:g.12185C>A , LRG_27:g.12185C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.693C>A	ENSP00000512083.1:p.Ile231=
ENST00000695692.1:n.140C>A
ENST00000245907.11:c.816C>A MANE Select	ENSP00000245907.4:p.Ile272=
ENST00000245907.10:c.816C>A	ENSP00000245907.4:p.Ile272=
ENST00000595577.1:n.320C>A
ENST00000597442.5:n.66C>A
NM_000064.3:c.816C>A	NP_000055.2:p.Ile272=
NM_000064.4:c.816C>A MANE Select	NP_000055.2:p.Ile272=