Canonical Allele Identifier: CA403642184

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6713267C>A (hg19) ; chr19:g.6713256C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713256C>A , CM000681.2:g.6713256C>A	GRCh38
NC_000019.9:g.6713267C>A , CM000681.1:g.6713267C>A	GRCh37
NC_000019.8:g.6664267C>A	NCBI36
NG_009557.1:g.12396G>T , LRG_27:g.12396G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.813G>T	ENSP00000512083.1:p.Gln271His
ENST00000695654.1:c.60G>T	ENSP00000512085.1:p.Gln20His
ENST00000695692.1:n.260G>T
ENST00000245907.11:c.936G>T MANE Select	ENSP00000245907.4:p.Gln312His
ENST00000245907.10:c.936G>T	ENSP00000245907.4:p.Gln312His
ENST00000594270.5:n.60G>T
ENST00000595577.1:n.440G>T
ENST00000597442.5:n.186G>T
NM_000064.3:c.936G>T	NP_000055.2:p.Gln312His
NM_000064.4:c.936G>T MANE Select	NP_000055.2:p.Gln312His