Canonical Allele Identifier: CA403619537

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6686179G>T (hg19) ; chr19:g.6686168G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686168G>T , CM000681.2:g.6686168G>T	GRCh38
NC_000019.9:g.6686179G>T , CM000681.1:g.6686179G>T	GRCh37
NC_000019.8:g.6637179G>T	NCBI36
NG_009557.1:g.39484C>A , LRG_27:g.39484C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2114C>A
ENST00000695652.1:c.3643C>A	ENSP00000512083.1:p.Leu1215Ile
ENST00000695653.1:c.1675C>A	ENSP00000512084.1:p.Leu559Ile
ENST00000695654.1:c.2791C>A	ENSP00000512085.1:p.Leu931Ile
ENST00000695655.1:c.2707C>A	ENSP00000512086.1:n.2707C>A
ENST00000695692.1:n.3130C>A
ENST00000245907.11:c.3766C>A MANE Select	ENSP00000245907.4:p.Leu1256Ile
ENST00000245907.10:c.3766C>A	ENSP00000245907.4:p.Leu1256Ile
ENST00000596238.1:n.209C>A
ENST00000601008.1:c.241+578C>A	ENSP00000471384.1:n.241+578C>A
NM_000064.3:c.3766C>A	NP_000055.2:p.Leu1256Ile
NM_000064.4:c.3766C>A MANE Select	NP_000055.2:p.Leu1256Ile