Canonical Allele Identifier: CA403643004

Gene: C3

Linked Data

• gnomAD v4: 19-6714047-C-T
• MyVariant Identifiers: chr19:g.6714058C>T (hg19) ; chr19:g.6714047C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6714047C>T , CM000681.2:g.6714047C>T	GRCh38
NC_000019.9:g.6714058C>T , CM000681.1:g.6714058C>T	GRCh37
NC_000019.8:g.6665058C>T	NCBI36
NG_009557.1:g.11605G>A , LRG_27:g.11605G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.595G>A	ENSP00000512083.1:p.Glu199Lys
ENST00000245907.11:c.718G>A MANE Select	ENSP00000245907.4:p.Glu240Lys
ENST00000245907.10:c.718G>A	ENSP00000245907.4:p.Glu240Lys
ENST00000595577.1:n.222G>A
NM_000064.3:c.718G>A	NP_000055.2:p.Glu240Lys
NM_000064.4:c.718G>A MANE Select	NP_000055.2:p.Glu240Lys