Canonical Allele Identifier: CA403642563

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6713455T>A (hg19) ; chr19:g.6713444T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713444T>A , CM000681.2:g.6713444T>A	GRCh38
NC_000019.9:g.6713455T>A , CM000681.1:g.6713455T>A	GRCh37
NC_000019.8:g.6664455T>A	NCBI36
NG_009557.1:g.12208A>T , LRG_27:g.12208A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.716A>T	ENSP00000512083.1:p.Gln239Leu
ENST00000695692.1:n.163A>T
ENST00000245907.11:c.839A>T MANE Select	ENSP00000245907.4:p.Gln280Leu
ENST00000245907.10:c.839A>T	ENSP00000245907.4:p.Gln280Leu
ENST00000595577.1:n.343A>T
ENST00000597442.5:n.89A>T
NM_000064.3:c.839A>T	NP_000055.2:p.Gln280Leu
NM_000064.4:c.839A>T MANE Select	NP_000055.2:p.Gln280Leu