Canonical Allele Identifier: CA403633971

Gene: C3

Linked Data

• dbSNP Id: rs1450332638
• MyVariant Identifiers: chr19:g.6697731C>T (hg19) ; chr19:g.6697720C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697720C>T , CM000681.2:g.6697720C>T	GRCh38
NC_000019.9:g.6697731C>T , CM000681.1:g.6697731C>T	GRCh37
NC_000019.8:g.6648731C>T	NCBI36
NG_009557.1:g.27932G>A , LRG_27:g.27932G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.863G>A
ENST00000695652.1:c.2392G>A	ENSP00000512083.1:p.Val798Ile
ENST00000695653.1:c.424G>A	ENSP00000512084.1:p.Val142Ile
ENST00000695654.1:c.1639G>A	ENSP00000512085.1:p.Val547Ile
ENST00000695655.1:c.1456G>A	ENSP00000512086.1:n.1456G>A
ENST00000695692.1:n.1879G>A
ENST00000245907.11:c.2515G>A MANE Select	ENSP00000245907.4:p.Val839Ile
ENST00000245907.10:c.2515G>A	ENSP00000245907.4:p.Val839Ile
ENST00000602053.1:n.563G>A
NM_000064.3:c.2515G>A	NP_000055.2:p.Val839Ile
NM_000064.4:c.2515G>A MANE Select	NP_000055.2:p.Val839Ile