Canonical Allele Identifier: CA403642056

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6713206G>A (hg19) ; chr19:g.6713195G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713195G>A , CM000681.2:g.6713195G>A	GRCh38
NC_000019.9:g.6713206G>A , CM000681.1:g.6713206G>A	GRCh37
NC_000019.8:g.6664206G>A	NCBI36
NG_009557.1:g.12457C>T , LRG_27:g.12457C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.874C>T	ENSP00000512083.1:p.His292Tyr
ENST00000695654.1:c.121C>T	ENSP00000512085.1:p.His41Tyr
ENST00000695692.1:n.321C>T
ENST00000245907.11:c.997C>T MANE Select	ENSP00000245907.4:p.His333Tyr
ENST00000245907.10:c.997C>T	ENSP00000245907.4:p.His333Tyr
ENST00000594270.5:n.121C>T
ENST00000595577.1:n.501C>T
ENST00000597442.5:n.247C>T
NM_000064.3:c.997C>T	NP_000055.2:p.His333Tyr
NM_000064.4:c.997C>T MANE Select	NP_000055.2:p.His333Tyr