Canonical Allele Identifier: CA403619474

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6686168C>A (hg19) ; chr19:g.6686157C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686157C>A , CM000681.2:g.6686157C>A	GRCh38
NC_000019.9:g.6686168C>A , CM000681.1:g.6686168C>A	GRCh37
NC_000019.8:g.6637168C>A	NCBI36
NG_009557.1:g.39495G>T , LRG_27:g.39495G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2125G>T
ENST00000695652.1:c.3654G>T	ENSP00000512083.1:p.Gln1218His
ENST00000695653.1:c.1686G>T	ENSP00000512084.1:p.Gln562His
ENST00000695654.1:c.2802G>T	ENSP00000512085.1:p.Gln934His
ENST00000695655.1:c.2718G>T	ENSP00000512086.1:n.2718G>T
ENST00000695692.1:n.3141G>T
ENST00000245907.11:c.3777G>T MANE Select	ENSP00000245907.4:p.Gln1259His
ENST00000245907.10:c.3777G>T	ENSP00000245907.4:p.Gln1259His
ENST00000596238.1:n.220G>T
ENST00000601008.1:c.241+589G>T	ENSP00000471384.1:n.241+589G>T
NM_000064.3:c.3777G>T	NP_000055.2:p.Gln1259His
NM_000064.4:c.3777G>T MANE Select	NP_000055.2:p.Gln1259His