Canonical Allele Identifier: CA403634182

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6697797C>A (hg19) ; chr19:g.6697786C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697786C>A , CM000681.2:g.6697786C>A	GRCh38
NC_000019.9:g.6697797C>A , CM000681.1:g.6697797C>A	GRCh37
NC_000019.8:g.6648797C>A	NCBI36
NG_009557.1:g.27866G>T , LRG_27:g.27866G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.797G>T
ENST00000695652.1:c.2326G>T	ENSP00000512083.1:p.Val776Leu
ENST00000695653.1:c.358G>T	ENSP00000512084.1:p.Val120Leu
ENST00000695654.1:c.1573G>T	ENSP00000512085.1:p.Val525Leu
ENST00000695655.1:c.1390G>T	ENSP00000512086.1:n.1390G>T
ENST00000695692.1:n.1813G>T
ENST00000245907.11:c.2449G>T MANE Select	ENSP00000245907.4:p.Val817Leu
ENST00000245907.10:c.2449G>T	ENSP00000245907.4:p.Val817Leu
ENST00000602053.1:n.497G>T
NM_000064.3:c.2449G>T	NP_000055.2:p.Val817Leu
NM_000064.4:c.2449G>T MANE Select	NP_000055.2:p.Val817Leu